ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)

dbSNP: rs553430197
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 RCV000631055 SCV000752044 likely benign Glycogen storage disease, type II 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431856 SCV002728220 uncertain significance Cardiovascular phenotype 2021-07-12 criteria provided, single submitter clinical testing The p.S736N variant (also known as c.2207G>A), located in coding exon 15 of the GAA gene, results from a G to A substitution at nucleotide position 2207. The serine at codon 736 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000631055 SCV001455432 uncertain significance Glycogen storage disease, type II 2019-10-28 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.