ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.2057G>A (p.Arg686His)

dbSNP: rs1049444314
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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 RCV002034095 SCV002317330 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-09-29 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This sequence change replaces arginine with histidine at codon 686 of the GYS1 protein (p.Arg686His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency).

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