ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)

dbSNP: rs121909204
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
Invitae RCV001040974 SCV001204568 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1028 of the ABCA4 protein (p.Ala1028Val). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 7881). This missense change has been observed in individual(s) with ABCA4-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000008331 SCV000028539 pathogenic Severe early-childhood-onset retinal dystrophy 2016-12-29 no assertion criteria provided literature only

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.