Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177660 | SCV000229562 | uncertain significance | not provided | 2015-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001248745 | SCV001422253 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2022-02-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1384 of the CEP290 protein (p.Arg1384Cys). This variant is present in population databases (rs794727563, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 196793). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV001526754 | SCV001737269 | uncertain significance | Joubert syndrome 5 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478586 | SCV002776938 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917653 | SCV004731323 | uncertain significance | CEP290-related condition | 2023-10-23 | criteria provided, single submitter | clinical testing | The CEP290 c.4150C>T variant is predicted to result in the amino acid substitution p.Arg1384Cys. This variant was reported in the homozygous state in an individual who underwent whole exome sequencing due to a personal history of developmental delay and seizures; however, no evidence was provided regarding the pathogenicity of this variant (Monies et al. 2017. PubMed ID: 28600779, Supplementary Materials). This variant is reported in 0.010% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88481601-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001826901 | SCV002094233 | uncertain significance | Leber congenital amaurosis | 2020-07-10 | no assertion criteria provided | clinical testing |