Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001031170 | SCV001194476 | pathogenic | Ornithine carbamoyltransferase deficiency | 2019-08-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the OTC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the OTC gene. This is expected to result in an absent or disrupted protein product. A similar deletion of exon 1 of the OTC gene has been reported in a family affected with ornithine transcarbamylase (OTC) deficiency; however, the deletion identified in this family also included the RPGR gene, which is associated with retinitis pigmentosa (PMID: 20817516). Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). For these reasons, this variant has been classified as Pathogenic. |