Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408526 | SCV000281844 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085471 | SCV000511885 | pathogenic | not provided | 2021-12-08 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (severe reduction in protein expression) (Shroyer et al., 2001); 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: 12442277, 15942264, 21911583, 22229821, 15494742, 15192030, 11328725, 10711710, 17325136, 22661472, 24713488, 23096905, 25097154, 20696155, 31589614, 32619608, 29925512, 28559085, 29555955, 11687513) |
Invitae | RCV000085471 | SCV001227097 | pathogenic | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 767 of the ABCA4 protein (p.Val767Asp). This variant is present in population databases (rs61751395, gnomAD 0.004%). This missense change has been observed in individuals with Stargardt disease, retinitis pigmentosa or generalized choriocapillaris dystrophy (PMID: 10711710, 11687513, 24713488, 28559085, 29555955, 29925512). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99127). 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%. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 11687513). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074642 | SCV001240234 | pathogenic | Retinal dystrophy | 2019-02-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085471 | SCV001245779 | pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000408526 | SCV002580049 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2022-06-01 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085471 | SCV000117608 | not provided | not provided | no assertion provided | not provided |