ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.488A>T (p.Asp163Val)

gnomAD frequency: 0.00001  dbSNP: rs755903462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248409 SCV001421896 uncertain significance Glycogen storage disease, type II 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 163 of the GAA protein (p.Asp163Val). This variant is present in population databases (rs755903462, gnomAD 0.002%). 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: 972389). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001813817 SCV002061014 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 972389)
Revvity Omics, Revvity RCV001813817 SCV003828495 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248409 SCV002091925 uncertain significance Glycogen storage disease, type II 2021-01-21 no assertion criteria provided clinical testing

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