Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202839 | SCV001373969 | pathogenic | Glycogen storage disease, type V | 2023-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 587 of the PYGM protein (p.Leu587Pro). This variant is present in population databases (rs761438921, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. 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 PYGM protein function. ClinVar contains an entry for this variant (Variation ID: 934449). This variant is also known as L586P. This missense change has been observed in individual(s) with McArdle disease (PMID: 16154688, 26913921). It has also been observed to segregate with disease in related individuals. |
Revvity Omics, |
RCV001202839 | SCV002018995 | likely pathogenic | Glycogen storage disease, type V | 2021-06-14 | criteria provided, single submitter | clinical testing |