ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.626C>T (p.Ala209Val) (rs72558417)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634844 SCV000756193 pathogenic Ornithine carbamoyltransferase deficiency 2017-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 209 of the OTC protein (p.Ala209Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in both males and females affected with ornithine transcarbamylase deficiency (PMID: 8530002, 25433810, 10070627, 9286441, 12536032, 8807340). ClinVar contains an entry for this variant (Variation ID: 97275). Enzymatic activity assays using tissue samples from affected individuals carrying this variant indicate that this missense change may impair OTC protein function (PMID: 8807340, 11793468). For these reasons, this variant has been classified as Pathogenic.
GenMed Metabolism Lab RCV000083518 SCV000115604 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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