ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile)

gnomAD frequency: 0.00001  dbSNP: rs1395831465
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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 RCV002020082 SCV002290554 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 515 of the GYS1 protein (p.Thr515Ile). 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 disruptive. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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