ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1279A>G (p.Met427Val)

gnomAD frequency: 0.00004  dbSNP: rs746669628
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316719 SCV001507352 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 427 of the GYS1 protein (p.Met427Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs746669628, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. 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.

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