ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.370C>T (p.Pro124Ser)

dbSNP: rs1712821278
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925231 SCV002168896 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-08-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 124 of the GYG1 protein (p.Pro124Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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.