ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.634G>T (p.Gly212Ter) (rs772049322)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486937 SCV000567659 pathogenic not provided 2015-08-13 criteria provided, single submitter clinical testing The G212X nonsense variant in the OTC gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, approximately 20% of females who are heterozygous for mutations in the OTC gene are clinically symptomatic with disease severity similar to males with partial deficiency (Yamaguchi et al., 2006; Tuchman et al., 2002). Although this variant has not been reported previously to our knowledge, we interpret it to be a pathogenic variant.

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