ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.681C>T (p.Asp227=)

gnomAD frequency: 0.00001  dbSNP: rs780515378
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
Invitae RCV001477725 SCV001681972 likely benign Glycogen storage disease, type II 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726566 SCV001961732 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GAA: BP4, BP7
Ambry Genetics RCV002368460 SCV002664717 likely benign Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.