Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708357 | SCV000837467 | pathogenic | Ornithine carbamoyltransferase deficiency | 2018-04-19 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the OTC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been reported as heterozygous in a female affected with ornithine transcarbamylase (OTC) deficiency (PMID: 25994866). Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). For these reasons, this variant has been classified as Pathogenic. |