Total submissions: 31
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000114202 | SCV000147755 | pathogenic | Meckel-Gruber syndrome | 2013-07-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000086298 | SCV000202411 | pathogenic | not provided | 2014-05-01 | criteria provided, single submitter | clinical testing | |
UW Hindbrain Malformation Research Program, |
RCV000001396 | SCV000256366 | pathogenic | Joubert syndrome 5 | 2015-02-23 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV000515339 | SCV000611257 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086298 | SCV000617621 | pathogenic | not provided | 2022-01-04 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25937446, 23591405, 23954617, 21866095, 25818971, 16682973, 22355252, 29518907, 29398085, 26092869, 30718709, 25525159, 32139166, 27353947, 16682970, 22693042, 29620724, 28559085, 31411728, 31734136, 31589614, 21245082, 21068128, 20690115, 17564967, 17345604, 16909394, 31091803, 31488071, 31346239, 30446612, 29298421, 30114557, 26862157, 26729329, 27081510, 23847139, 19778711) |
Invitae | RCV000531295 | SCV000634661 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1890*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (rs137852832, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome, Leber congenital amaurosis, and/or retinitis pigmentosa (PMID: 16682970, 16682973, 17564967, 21068128, 21245082, 22355252, 22693042, 23591405, 23954617, 25818971, 26092869, 27353947). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1333). For these reasons, this variant has been classified as Pathogenic. |
Kasturba Medical College, |
RCV001000092 | SCV000930045 | pathogenic | Meckel syndrome, type 4 | criteria provided, single submitter | research | ||
Centre for Genomic Medicine, |
RCV001002714 | SCV001156390 | pathogenic | Senior-Loken syndrome 6; Joubert syndrome 5 | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073790 | SCV001239352 | pathogenic | Retinal dystrophy | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Kariminejad - |
RCV001836688 | SCV001250906 | pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Pathology and Clinical Laboratory Medicine, |
RCV000001396 | SCV001438883 | pathogenic | Joubert syndrome 5 | criteria provided, single submitter | clinical testing | ||
Pathology and Clinical Laboratory Medicine, |
RCV001261607 | SCV001438891 | pathogenic | Meckel syndrome, type 6 | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV000001396 | SCV001443021 | pathogenic | Joubert syndrome 5 | 2023-01-03 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM3_VSTR, PM2_SUP, PP4 |
Baylor Genetics | RCV000001396 | SCV001523407 | pathogenic | Joubert syndrome 5 | 2020-06-01 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genomics England Pilot Project, |
RCV001542773 | SCV001760312 | likely pathogenic | Bardet-Biedl syndrome 14 | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV000086298 | SCV002017019 | pathogenic | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | |
3billion | RCV000001396 | SCV002059088 | pathogenic | Joubert syndrome 5 | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000001333, PMID:16682973). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000095, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Suma Genomics | RCV001815157 | SCV002062078 | pathogenic | COG7 congenital disorder of glycosylation | criteria provided, single submitter | clinical testing | ||
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000001396 | SCV002072977 | pathogenic | Joubert syndrome 5 | criteria provided, single submitter | clinical testing | The stop gained p.G1890* in CEP290 (NM_025114.4) has been reported has been reported previously as homozygous and compound heterozygous in multiple individuals and is one of the most commonly reported variants in Joubert syndrome (Sayer et al,Bachmann-Gagescu R et al). This variant is predicted to cause loss of normal protein function through protein truncation. The G1890X variant is observed in 6/14472 (0.04%) alleles from individuals of South Asian background, in the ExAC dataset, and no individuals were reported to be homozygous. For these reasons, this variant has been classified as Pathogenic | |
Suma Genomics | RCV001836689 | SCV002097332 | pathogenic | Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV003147273 | SCV003836349 | pathogenic | CEP290-Related Disorders | 2022-05-13 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Genomics, |
RCV000001396 | SCV004045776 | pathogenic | Joubert syndrome 5 | 2023-10-19 | criteria provided, single submitter | clinical testing | This homozygous termination variant identified in 2 year male with GDD, and breathing difficulties with hypotonia, nystagmus, retinal dystrophy. MRI Brain revealed Molar Tooth sign suggestive of Joubert Syndrome. Family history of female sibling expired 10 hours of life with respiratory distress. This nucleotide change has an allele frequency of 0.0098% in gnomAD aggregate database [PM2], In-silico prediction tools [MutationTaster] predict a deleterious nature of this variant. This variant is submitted to clinvar database multiple times with an interpretation "Pathogenic/Likely Pathogenic". Clinvar variation id [1333] [PP5]. PMID [26092869] Based on the available evidences and the clinical phenotype in our case, this variant is classified as "Pathogenic". |
Preventiongenetics, |
RCV003415616 | SCV004113819 | pathogenic | CEP290-related condition | 2023-04-27 | criteria provided, single submitter | clinical testing | The CEP290 c.5668G>T variant is predicted to result in premature protein termination (p.Gly1890*). This variant is one of the most common pathogenic variants detected in CEP290 and has been documented as causative for Joubert syndrome (Sayer et al. 2006. PubMed ID: 16682973; Valente et al. 2006. PubMed ID: 16682970; Brancati et al. 2007. PubMed ID: 17564967; Bachmann-Gagescu et al. 2015. PubMed ID: 26092869). Different chain-terminating variants in CEP290 have been reported in patients with Meckel-Gruber syndrome (Baala et al. 2007. PubMed ID: 17564974; Frank et al. 2008. PubMed ID: 17705300) and Bardet-Biedl syndrome (Leitch et al. 2008. PubMed ID: 18327255). This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88471040-C-A). Nonsense variants in CEP290 are expected to be pathogenic, and this variant has been classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1333/). Given all the evidence, we interpret c.5668G>T (p.Gly1890*) as pathogenic. |
Baylor Genetics | RCV001542773 | SCV004214854 | pathogenic | Bardet-Biedl syndrome 14 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001396 | SCV000021546 | pathogenic | Joubert syndrome 5 | 2007-07-01 | no assertion criteria provided | literature only | |
Retina International | RCV000086298 | SCV000118444 | not provided | not provided | no assertion provided | not provided | ||
Department of Clinical Genetics, |
RCV000787813 | SCV000926823 | pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000001396 | SCV001133222 | likely pathogenic | Joubert syndrome 5 | 2019-09-26 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001276487 | SCV001462866 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000086298 | SCV001932642 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000086298 | SCV001957713 | pathogenic | not provided | no assertion criteria provided | clinical testing |