ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser)

gnomAD frequency: 0.00001  dbSNP: rs202149628
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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 RCV001973403 SCV002267148 uncertain significance Glycogen storage disease, type VI 2022-12-15 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. ClinVar contains an entry for this variant (Variation ID: 1474471). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs202149628, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 488 of the PYGL protein (p.Thr488Ser).

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