ClinVar Miner

Submissions for variant NC_000023.11:g.(?_38381322)_(38413090_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707743 SCV000836853 pathogenic Ornithine carbamoyltransferase deficiency 2018-03-15 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4-9 of the OTC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 4-9 has been reported in an individual affected with ornithine transcarbamylase (OTC) deficiency (PMID: 18440262). Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). For these reasons, this variant has been classified as Pathogenic.

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