ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys)

dbSNP: rs760423376
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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 RCV001944840 SCV002135549 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-01-13 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 C15"). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (rs760423376, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 605 of the GYS1 protein (p.Tyr605Cys).

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