Total submissions: 2
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. |
Gen |
RCV000083339 | SCV000115425 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |