ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)

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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 RCV002766501 SCV003026717 uncertain significance Glycogen storage disease, type VI 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 634 of the PYGL protein (p.Asp634Glu). This variant is present in population databases (rs755141133, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. 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. 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.

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