ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)

gnomAD frequency: 0.00036  dbSNP: rs145448665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216147 SCV001387925 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 672 of the GYS1 protein (p.Gly672Ser). This variant is present in population databases (rs145448665, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 945494). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001587233 SCV001826314 uncertain significance not provided 2020-09-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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