ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)

dbSNP: rs1567706564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689235 SCV000816876 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 322 of the G6PC protein (p.Phe322Val). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with clinical features of glycogen storage disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 568776). 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. This variant disrupts the p.Phe322 amino acid residue in G6PC. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11058903, 30890478). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Natera, Inc. RCV000689235 SCV002093331 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-12-15 no assertion criteria provided clinical testing

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