ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.533C>T (p.Thr178Met) (rs72556284)

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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 RCV000083477 SCV000115563 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083477 SCV000490676 pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing The T178M missense variant in the OTC gene is a recurrent pathogenic variant in the OTC gene and has been reported in several unrelated individuals with ornithine transcarbamylase (OTC) deficiency (Oppliger et al., 1995; Ribes-Koninckx et al., 2012; Brassier et al., 2015). Males who are hemizygous for T178M have been reported to have severe, neonatal onset of disease (Oppliger et al., 1995; McCullough et al., 2000; Brassier et al., 2015). Approximately 20% of females who are heterozygous for variants in the OTC gene are clinically symptomatic with disease severity similar to males with partial deficiency (Yamaguchi et al., 2006; Tuchman et al., 2002). Therefore, we interpret T178M in OTC as a pathogenic variant.

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