Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240275 | SCV001413206 | pathogenic | Ornithine carbamoyltransferase deficiency | 2019-09-29 | 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 not been reported in the literature in individuals with OTC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile261Leufs*6) in the OTC gene. It is expected to result in an absent or disrupted protein product. |