ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)

gnomAD frequency: 0.00003  dbSNP: rs375021198
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 RCV000631068 SCV000752059 uncertain significance Glycogen storage disease, type II 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 920 of the GAA protein (p.Gly920Ser). This variant is present in population databases (rs375021198, gnomAD 0.008%). 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: 526526). 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.
Illumina Laboratory Services, Illumina RCV000631068 SCV001287988 uncertain significance Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000631068 SCV002027315 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480721 SCV004224440 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV000631068 SCV002094486 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.