ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)

dbSNP: rs1410392732
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235195 SCV001407871 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 222 of the G6PC protein (p.Gly222Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with G6PC-related conditions (PMID: 7744838, 7814621, 9359038, 10070617). ClinVar contains an entry for this variant (Variation ID: 961497). 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. Experimental studies have shown that this missense change affects G6PC function (PMID: 7744838, 7814621, 9359038, 11739393). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Centre for Human Genetics RCV001235195 SCV001482272 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-08-20 criteria provided, single submitter clinical testing disease causing
Natera, Inc. RCV001235195 SCV002093319 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-03-17 no assertion criteria provided clinical testing

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.