ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)

gnomAD frequency: 0.00007  dbSNP: rs144681053
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
Invitae RCV000796633 SCV000936154 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 479 of the GYS1 protein (p.Pro479Leu). This variant is present in population databases (rs144681053, gnomAD 0.009%). 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: 643030). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Baylor Genetics RCV000796633 SCV001522725 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.