ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.599C>T (p.Ala200Val)

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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 RCV002587674 SCV002942218 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-06-26 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. This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is present in population databases (rs762433858, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 200 of the GYG1 protein (p.Ala200Val).

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