ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.274C>T (p.Arg92Ter) (rs67418243)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenMed Metabolism Lab RCV000083383 SCV000115469 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083383 SCV000779382 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing The R92X variant has been reported previously in patients with OTC deficiency (Grompe et al. 1991; Kim et al. 2006). The R92X variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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