ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.217-2dup (rs796052015)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186070 SCV000239041 pathogenic not provided 2013-11-13 criteria provided, single submitter clinical testing This variant is denoted as c.217-2dupA, the normal sequence with the base that is duplicated in braces is: atttat{a}gTATTTG with the intronic bases in lower case and the exonic bases in upper case. The c.217-2dupA the splice site mutation in the OTC gene destroys the canonical splice acceptor site in intron 2. It is predicted to cause abnormal gene splicing, 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 variant is found in OTC panel(s).

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