ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)

gnomAD frequency: 0.00001  dbSNP: rs104894568
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000012786 SCV001163782 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000012786 SCV001204378 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 124 of the G6PC protein (p.Ala124Thr). This variant is present in population databases (rs104894568, gnomAD 0.01%). This missense change has been observed in individual(s) with glycogen storage disease type Ia (PMID: 8733042, 11949931). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12006). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt G6PC protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects G6PC function (PMID: 10738525, 11739393). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000012786 SCV003833765 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-11-30 criteria provided, single submitter clinical testing
OMIM RCV000012786 SCV000033026 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1996-05-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.