ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1834C>A (p.His612Asn)

dbSNP: rs2039264895
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
3billion RCV002251274 SCV002521857 uncertain significance Glycogen storage disease, type II 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.65; 3Cnet: 0.93). Different missense changes at the same codon (p.His612Gln, p.His612Tyr) have been reported to be associated with GAA- related disorder (ClinVar ID: VCV000972801 / PMID: 16917947, 19588081). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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.