ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)

gnomAD frequency: 0.00004  dbSNP: rs62638208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086028 SCV001534966 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 5846). This missense change has been observed in individual(s) with congenital stationary night blindness (PMID: 16249515, 19666700). This variant is present in population databases (rs62638208, gnomAD 0.005%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 522 of the GRM6 protein (p.Cys522Tyr). 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 GRM6 protein function. 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. Experimental studies have shown that this missense change affects GRM6 function (PMID: 17405131).
OMIM RCV000006203 SCV000026385 pathogenic Congenital stationary night blindness 1B 2005-11-01 no assertion criteria provided literature only
Retina International RCV000086028 SCV000118171 not provided not provided no assertion provided not provided

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.