ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001582383 SCV001821379 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-08-24 criteria provided, single submitter clinical testing Variant summary: G6PC c.808G>C (p.Gly270Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251358 control chromosomes (gnomAD). c.808G>C (also described as c.887G>C by old nomenclature in the literature) has been reported in the literature in at least an individual affected with Glycogen Storage Disease Type Ia (Trioche_2000). In in vitro functional studies, the variant resulted in reduced phosphohydrolase activity compared to wild-type (Shieh_2002). Another variant affecting the same codon (p.Gly270Val) has been reported as pathogenic in ClinVar, suggesting this residue may be clinically important. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.