ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)

dbSNP: rs1199839572
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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 RCV001904677 SCV002123149 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-06-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GYS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This sequence change creates a premature translational stop signal (p.Gln656*) in the GYS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the GYS1 protein. This variant is not present in population databases (ExAC no frequency).

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