ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.140del (p.Asn47fs)

dbSNP: rs72554313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283454 SCV002573305 pathogenic Ornithine carbamoyltransferase deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with OTC-related disorder (ClinVar ID: VCV000097111 / PMID: 9452049). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
GenMed Metabolism Lab RCV000083339 SCV000115425 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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