ClinVar Miner

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

dbSNP: rs150382575
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Total submissions: 4
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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 disorder due to hepatic glycogen synthase deficiency 2022-01-17 criteria provided, single submitter clinical testing
Invitae RCV000763305 SCV002177839 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2022-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg192*) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). This variant is present in population databases (rs150382575, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with GYS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214530). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000763305 SCV003830370 likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2022-03-11 criteria provided, single submitter clinical testing

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