ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.134C>T (p.Thr45Met)

dbSNP: rs1600154972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215536 SCV001387287 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 45 of the GYS1 protein (p.Thr45Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GYS1-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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