ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.347G>T (p.Gly116Val)

gnomAD frequency: 0.00001  dbSNP: rs754285414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799963 SCV000939657 uncertain significance Glycogen storage disease, type II 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 116 of the GAA protein (p.Gly116Val). This variant is not present in population databases (gnomAD 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: 645805). 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.
Ambry Genetics RCV002336599 SCV002618588 uncertain significance Cardiovascular phenotype 2022-04-03 criteria provided, single submitter clinical testing The p.G116V variant (also known as c.347G>T), located in coding exon 1 of the GAA gene, results from a G to T substitution at nucleotide position 347. The glycine at codon 116 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV000799963 SCV002792726 uncertain significance Glycogen storage disease, type II 2021-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000799963 SCV001453584 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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