Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408566 | SCV000281822 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074843 | SCV001240444 | pathogenic | Retinal dystrophy | 2019-07-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085405 | SCV001586715 | pathogenic | not provided | 2023-12-05 | 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 537 of the ABCA4 protein (p.Arg537Cys). This variant is present in population databases (rs61748556, gnomAD 0.007%). This missense change has been observed in individuals with clinical features of Stargardt disease (PMID: 11527935, 19243736, 23755871, 28947085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99062). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000085405 | SCV001791111 | likely pathogenic | not provided | 2022-11-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 14517951, 28947085, 28041643, 19243736, 29555028, 28118664, 23755871, 25066811, 35119454, Saleh[article]2021, 32619608, 11527935, 32581362) |
Genetics and Molecular Pathology, |
RCV000408566 | SCV002556559 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-09-17 | criteria provided, single submitter | clinical testing | PM2, PM3_Strong, PP3 |
Retina International | RCV000085405 | SCV000117542 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000505043 | SCV000598937 | likely pathogenic | Macular dystrophy | 2015-01-01 | no assertion criteria provided | research |