Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000355100 | SCV000396567 | uncertain significance | Glycogen phosphorylase kinase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850690 | SCV002109879 | uncertain significance | Glycogen storage disease IXc | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 28 of the PHKG2 protein (p.Asp28Val). This variant is present in population databases (rs777228104, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PHKG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 318932). 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 not expected to disrupt PHKG2 protein function. 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. |