ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)

dbSNP: rs794727016
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173980 SCV000225197 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV002516609 SCV002938254 likely pathogenic Glycogen storage disease, type II 2022-06-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 193796). This missense change has been observed in individuals with Pompe disease (PMID: 31086307). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 528 of the GAA protein (p.Gly528Ala).
Baylor Genetics RCV002516609 SCV004195472 likely pathogenic Glycogen storage disease, type II 2023-09-25 criteria provided, single submitter 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.