ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)

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
Department of Pediatrics, Division of Medical Genetics,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000791246 SCV000925966 pathogenic Glycogen storage disease, type II 2019-07-10 no assertion criteria provided clinical testing The c.876C>G creates a premature protein product p.Y292* resulting from early termination of protein synthesis. This variant has not been reported in the literature in individuals with GAA-related disease. The c.876C>G (p.Y292*) located at N-terminal of beta-sheet domain, is predicted to eliminate most of the enzyme, including the catalytic domain. In vitro expression analysis of c.876C>G (p.Y292*) indicates that this mutation lead to undetectable GAA activity in both cell lysate and culture medium and prohibited secretion of the precursor form completely. We interpret this variant has been classified as 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.