Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000012790 | SCV003441891 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2023-04-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects G6PC function (PMID: 11739393). 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 G6PC protein function. ClinVar contains an entry for this variant (Variation ID: 12010). This missense change has been observed in individual(s) with glycogen storage disease type 1a (PMID: 7623438). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 166 of the G6PC protein (p.Val166Gly). |
OMIM | RCV000012790 | SCV000033030 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1997-10-31 | no assertion criteria provided | literature only |