ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.590C>A (p.Thr197Asn)

dbSNP: rs761890037
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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 RCV002047111 SCV002109731 uncertain significance Glycogen storage disease, type II 2021-06-27 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 not expected to disrupt GAA protein function. This variant has been observed in individual(s) with clinical features of GAA-related conditions (PMID: 29149851). This variant is present in population databases (rs761890037, ExAC 0.006%). This sequence change replaces threonine with asparagine at codon 197 of the GAA protein (p.Thr197Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.

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