ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1731G>C (p.Gln577His)

gnomAD frequency: 0.00004  dbSNP: rs368171220
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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 RCV001930472 SCV002189761 uncertain significance Glycogen storage disease, type VI 2023-04-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 577 of the PYGL protein (p.Gln577His). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PYGL protein function. ClinVar contains an entry for this variant (Variation ID: 1414437). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs368171220, gnomAD 0.003%).

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