ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.2207del (p.Arg736fs)

dbSNP: rs2038513000
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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 RCV001068266 SCV001233365 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2024-07-08 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the GYS1 gene (p.Arg736Leufs*106). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acid(s) of the GYS1 protein and extend the protein by 103 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 861694). 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.

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