ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)

gnomAD frequency: 0.00018  dbSNP: rs372799904
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814062 SCV000954458 likely benign Glycogen storage disease, type II 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV002259372 SCV002538883 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000814062 SCV002793739 uncertain significance Glycogen storage disease, type II 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002259372 SCV003834104 uncertain significance not provided 2021-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938174 SCV004763840 uncertain significance GAA-related condition 2024-02-07 criteria provided, single submitter clinical testing The GAA c.1232G>A variant is predicted to result in the amino acid substitution p.Arg411Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000814062 SCV001455607 uncertain significance Glycogen storage disease, type II 2020-09-16 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.