ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)

dbSNP: rs121918193
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
Invitae RCV000001213 SCV001416143 pathogenic Glycogen storage disease, type VII 2023-09-12 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with glycogen storage disease (PMID: 7513946, 9443500). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 39 of the PFKM protein (p.Arg39Pro). ClinVar contains an entry for this variant (Variation ID: 1154). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg39 amino acid residue in PFKM. Other variant(s) that disrupt this residue have been observed in individuals with PFKM-related conditions (PMID: 8037209, 27066546), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PFKM protein function.
Baylor Genetics RCV000001213 SCV004203963 likely pathogenic Glycogen storage disease, type VII 2022-03-20 criteria provided, single submitter clinical testing
OMIM RCV000001213 SCV000021363 pathogenic Glycogen storage disease, type VII 1998-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000001213 SCV002091066 likely pathogenic Glycogen storage disease, type VII 2020-08-07 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.