ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) (rs150382575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196241 SCV000251595 likely pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing The R192X variant in the GYS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R192X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R192X as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763305 SCV000893972 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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