Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240580 | SCV001413542 | pathogenic | Ornithine carbamoyltransferase deficiency | 2019-10-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). This variant has been observed in an individual with OTC-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu251Ilefs*42) in the OTC gene. It is expected to result in an absent or disrupted protein product. |