ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)

dbSNP: rs149295512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915038 SCV002176718 uncertain significance Glycogen storage disease, type II 2021-08-04 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with aspartic acid at codon 191 of the GAA protein (p.Tyr191Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.

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