ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1A>C (p.Met1Leu)

dbSNP: rs748334413
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493237 SCV000583102 likely pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The c.1 A>C variant in the GYS1 has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. Therefore, we interpret c.1 A>C to be a likely pathogenic variant; however, the possibility that it is benign cannot be excluded."
Labcorp Genetics (formerly Invitae), Labcorp RCV001345596 SCV001539727 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-06-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GYS1 mRNA. The next in-frame methionine is located at codon 9. This variant is present in population databases (rs748334413, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 430320). 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.
Revvity Omics, Revvity RCV001345596 SCV002023443 likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2020-03-06 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.