ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1319T>C (p.Met440Thr)

gnomAD frequency: 0.00001  dbSNP: rs768847441
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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 RCV001866447 SCV002119421 uncertain significance Glycogen storage disease, type II 2021-09-04 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 present in population databases (rs768847441, ExAC 0.004%). This sequence change replaces methionine with threonine at codon 440 of the GAA protein (p.Met440Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.

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