ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.622G>A (p.Ala208Thr) (rs72558416)

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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 RCV000083517 SCV000115603 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083517 SCV000617479 pathogenic not provided 2018-11-08 criteria provided, single submitter clinical testing The A208T variant in the OTC gene has previously been reported in several unrelated families with late-onset ornithine transcarbamylase (OTC) deficiency and in an asymptomatic male identified by newborn screening (van Diggelen et al., 1996; Chiong et al., 2007; Lien et al., 2007; Cavicchi et al., 2014; Bijvoet et al., 2016; Sánchez et al., 2017). The A208T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A208T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret A208T to be a pathogenic variant.

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