ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer)

gnomAD frequency: 0.00001  dbSNP: rs1307281520
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
Eurofins Ntd Llc (ga) RCV000591223 SCV000704143 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532435 SCV003476735 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2024-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu153*) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GYS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 498897). For these reasons, this variant has been classified as Pathogenic.

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.