ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.958C>T (p.Arg320Ter) (rs72558473)

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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 RCV000083620 SCV000115706 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Invitae RCV000547443 SCV000631863 pathogenic Ornithine carbamoyltransferase deficiency 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 320 (p.Arg320*) of the OTC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTC are known to be pathogenic. This particular variant has been reported in individuals affected with ornithine transcarbamylase deficiency (PMID: 8829665, 9610619, 17041896, 25433810). ClinVar contains an entry for this variant (Variation ID: 97371). For these reasons, this variant has been classified as Pathogenic.

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