ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp)

gnomAD frequency: 0.00002  dbSNP: rs757446684
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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 RCV001920658 SCV002186516 uncertain significance Glycogen storage disease, type VI 2021-07-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PYGL-related conditions. 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 is present in population databases (rs757446684, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 533 of the PYGL protein (p.Arg533Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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