ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.868-2A>T (rs1064796335)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480612 SCV000572947 likely pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing The c.868-2 A>T variant has not been published as a pathogenic variant, nor has it been publishedas a benign polymorphism to our knowledge. The c.868-2 A>T splice site variant in the OTC genedestroys the canonical splice acceptor site in intron 8. It is predicted to cause abnormal genesplicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay,or to an abnormal protein product if the message is used for protein translation. The c.868-2 A>Tvariant was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. Therefore, we interpret c.868-2 A>T to be a likely pathogenic variant;however, the possibility that it is benign cannot be excluded.

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