ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)

gnomAD frequency: 0.00001  dbSNP: rs1369955206
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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 RCV001038243 SCV001201706 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-06-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 837003). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 736 of the GYS1 protein (p.Arg736Cys).

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