ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)

gnomAD frequency: 0.00003  dbSNP: rs767821988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697549 SCV000826168 uncertain significance Glycogen storage disease, type II 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 385 of the GAA protein (p.Arg385Cys). This variant is present in population databases (rs767821988, gnomAD 0.007%). 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: 575359). 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 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.
Genome-Nilou Lab RCV000697549 SCV001716379 uncertain significance Glycogen storage disease, type II 2021-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144541 SCV003834059 uncertain significance not provided 2021-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000697549 SCV002091995 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.