Total submissions: 18
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 | |
EGL Genetic Diagnostics, |
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 | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086298 | SCV000617621 | pathogenic | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | The G1890X variant in the CEP290 gene has been reported previously as homozygous and compound heterozygous in multiple individuals from three different families with clinical features of Joubert syndrome, including nephronophthisis (Sayer et al., 2006). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. 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 (Lek et al., 2016). We interpret G1890X as a pathogenic variant. |
Invitae | RCV000531295 | SCV000634661 | pathogenic | Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis | 2019-11-05 | 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. This variant is present in population databases (rs137852832, ExAC 0.04%). This variant is one of the most commonly reported variants in individuals affected with Joubert syndrome (PMID: 16682970, 16682973, 17564967, 21068128, 22693042, 25818971, 26092869), many of whom are homozygous for this variant. It has also been reported in individuals affected with retinitis pigmentosa (PMID: 23591405, 27353947), Leber congenital amaurosis (PMID: 21245082, 22355252), and Meckel syndrome (PMID: 23954617). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). 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 - |
RCV000001396 | SCV001250906 | pathogenic | Joubert syndrome 5 | 2015-11-02 | 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 | 2020-03-01 | criteria provided, single submitter | clinical testing | Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PS4_Moderate,PM2,PM3 |
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 | ||
Medical Genetics Laboratory, |
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 |