ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala)

gnomAD frequency: 0.00001  dbSNP: rs2050436450
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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 RCV002003335 SCV002268883 uncertain significance Glycogen storage disease, type VI 2021-04-23 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 PYGL protein function. This variant has not been reported in the literature in individuals with PYGL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 466 of the PYGL protein (p.Thr466Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.

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