ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.289A>G (p.Lys97Glu)

dbSNP: rs764543224
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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 RCV002037543 SCV002115607 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-07-12 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 tolerated. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (rs764543224, ExAC 0.002%). This sequence change replaces lysine with glutamic acid at codon 97 of the GYS1 protein (p.Lys97Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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