ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1520G>A (p.Arg507His)

gnomAD frequency: 0.00001  dbSNP: rs575153481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247938 SCV001421391 uncertain significance Glycogen storage disease, type V 2021-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 507 of the PYGM protein (p.Arg507His). This variant is present in population databases (rs575153481, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 972013). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
CeGaT Center for Human Genetics Tuebingen RCV002069314 SCV002497130 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing PYGM: PM2
Revvity Omics, Revvity RCV001247938 SCV003810400 uncertain significance Glycogen storage disease, type V 2019-09-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247938 SCV002092317 uncertain significance Glycogen storage disease, type V 2020-06-24 no assertion criteria provided 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.