ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)

dbSNP: rs941586075
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 RCV002016567 SCV002306301 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 963 of the IMPG2 protein (p.Ser963Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal dystrophies (PMID: 31736247). ClinVar contains an entry for this variant (Variation ID: 1509063). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002479762 SCV002792549 uncertain significance Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 2021-09-22 criteria provided, single submitter clinical testing

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.