ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr)

gnomAD frequency: 0.00004  dbSNP: rs542123045
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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 RCV002024184 SCV002308593 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-10-04 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is present in population databases (rs542123045, ExAC 0.009%). This sequence change replaces serine with threonine at codon 337 of the GYG1 protein (p.Ser337Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine.

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