ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)

dbSNP: rs374015407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Molecular Genetics, University of Zurich 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.