ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)

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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 RCV002839089 SCV003219186 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GYG1-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. 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 tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 301 of the GYG1 protein (p.Ser301Pro).

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