Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000020493 | SCV003442884 | pathogenic | Glycogen storage disease, type VI | 2022-05-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 456 of the PYGL protein (p.Val456Met). This variant is present in population databases (rs113993979, gnomAD 0.01%). This missense change has been observed in individual(s) with glycogen storage disease type VI (PMID: 17705025, 21646031, 32892177). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21328). 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 PYGL protein function. |
Gene |
RCV000020493 | SCV000040941 | not provided | Glycogen storage disease, type VI | no assertion provided | literature only |