ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)

gnomAD frequency: 0.00001  dbSNP: rs886043976
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
Eurofins Ntd Llc (ga) RCV000406460 SCV000342846 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062907 SCV001227732 uncertain significance Glycogen storage disease, type II 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 473 of the GAA protein (p.Gly473Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). 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: 288673). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001062907 SCV002027274 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001062907 SCV005653203 uncertain significance Glycogen storage disease, type II 2024-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001062907 SCV002092028 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.