Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Molecular Genetics, |
RCV001353043 | SCV001548162 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001366508 | SCV001562811 | pathogenic | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1771 of the ABCA4 protein (p.Gly1771Arg). This variant is present in population databases (rs374015407, gnomAD 0.0009%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 29925512, 33546218; Invitae). ClinVar contains an entry for this variant (Variation ID: 1048172). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |