Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV000408469 | SCV000281912 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000085697 | SCV001380885 | pathogenic | not provided | 2024-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1696 of the ABCA4 protein (p.Ser1696Asn). This variant is present in population databases (rs61750564, gnomAD 0.02%). This missense change has been observed in individuals with Stargardt disease (PMID: 18854780, 20128570, 24409374, 29854428). ClinVar contains an entry for this variant (Variation ID: 99344). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000085697 | SCV001786187 | likely pathogenic | not provided | 2020-11-20 | 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: 9973280, 31589614, 29854428, 28044389, 28118664, 24409374, 19265867, 18854780, 28365912, 18652558, 25097154, 22076985, 21873672, 19324865) |
| Fulgent Genetics, |
RCV002490743 | SCV002788206 | likely pathogenic | Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004815120 | SCV005071282 | likely pathogenic | Retinal dystrophy | 2020-01-01 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000085697 | SCV000117837 | not provided | not provided | no assertion provided | not provided |