Total submissions: 4
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, |
RCV000001213 | SCV002091066 | likely pathogenic | Glycogen storage disease, type VII | 2020-08-07 | no assertion criteria provided | clinical testing |