ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.70G>A (p.Ala24Thr)

gnomAD frequency: 0.00001  dbSNP: rs139716763
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000266365 SCV000344999 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV000631058 SCV000752048 uncertain significance Glycogen storage disease, type II 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 24 of the GAA protein (p.Ala24Thr). This variant is present in population databases (rs139716763, gnomAD 0.009%). 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: 290440). 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.
Genome-Nilou Lab RCV000631058 SCV002027199 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365324 SCV002664141 uncertain significance Cardiovascular phenotype 2022-01-10 criteria provided, single submitter clinical testing The p.A24T variant (also known as c.70G>A), located in coding exon 1 of the GAA gene, results from a G to A substitution at nucleotide position 70. The alanine at codon 24 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000266365 SCV003834090 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631058 SCV001463464 uncertain significance Glycogen storage disease, type II 2020-01-24 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.