ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)

dbSNP: rs776910485
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
CeGaT Center for Human Genetics Tuebingen RCV000513309 SCV000608479 likely pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing ABCA4: PM2, PM3, PP3, PP4
Invitae RCV000513309 SCV002257011 pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 444171). This missense change has been observed in individual(s) with Stargardt disease (PMID: 32531858; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 728 of the ABCA4 protein (p.Ser728Arg).

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.