ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)

dbSNP: rs756199247
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050926 SCV001215056 uncertain significance Glycogen storage disease, type II 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 931 of the GAA protein (p.Asp931Asn). This variant is present in population databases (rs756199247, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 847393). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001759783 SCV001996312 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001050926 SCV002027316 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001759783 SCV003828497 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001050926 SCV002094487 uncertain significance Glycogen storage disease, type II 2020-03-13 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.