ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)

gnomAD frequency: 0.00004  dbSNP: rs369847599
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 RCV001047915 SCV001211899 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-02-25 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 with GYS1-related conditions. This variant is present in population databases (rs369847599, ExAC 0.02%). This sequence change replaces arginine with glutamine at codon 371 of the GYS1 protein (p.Arg371Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.

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.