ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)

dbSNP: rs767229493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360986 SCV001556943 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2020-10-19 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GYS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 608 of the GYS1 protein (p.Ala608Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.

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