ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.298+1G>T (rs68058881)

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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 RCV000083393 SCV000115479 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083393 SCV000576744 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing The c.298+1 G>T splice site variant in the OTC gene has been previously reported in association with late onset ornithine transcarbamylase (OTC) deficiency in a hemizygous male (Yamaguchi et al., 2006). The c.298+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant destroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing. In summary, we interpret c.298+1 G>T as pathogenic, and its presence is consistent with the diagnosis of OTC deficiency in this individual. 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).

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