ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.559G>A (p.Gly187Arg)

dbSNP: rs770642815
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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 RCV000792682 SCV000931992 uncertain significance Glycogen storage disease, type VI 2018-12-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in an individual affected with glycogen storage disease (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs770642815, ExAC 0.01%). This sequence change replaces glycine with arginine at codon 187 of the PYGL protein (p.Gly187Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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