ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1176G>A (p.Thr392=)

gnomAD frequency: 0.00001  dbSNP: rs151212573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444982 SCV000521827 likely benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062465 SCV002409898 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-12-01 criteria provided, single submitter clinical testing

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