ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) (rs121918422)

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
Illumina Clinical Services Laboratory,Illumina RCV000017431 SCV000914578 uncertain significance Glycogen storage disease due to hepatic glycogen synthase deficiency 2017-09-07 criteria provided, single submitter clinical testing The GYS2 c.1472T>G (p.Met491Arg) missense variant has been reported in a single study in one individual with glycogen storage disease type 0, liver, in a compound heterozygous state with a second missense variant (Orho et al. 1998). Familial testing identified the patient's father as a heterozygous carrier of the p.Met491Arg variant, which was absent in the patient's unaffected sister. The p.Met491Arg variant was absent from 200 controls and is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium but this is based on one allele only and is presumed to be rare. Assessment of glycogen synthase activity of the variant in COS7 cells identified activity levels less than or equal to 3.5% of wild type activity (Orho et al. 1998). Based on the limited evidence, the p.Met491Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for glycogen storage disease type 0, liver. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000017431 SCV000037703 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 1998-08-01 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.