Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692422 | SCV000820247 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2021-12-20 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 571311). This variant has been observed in individual(s) with OTC deficiency (PMID: 18440262; Invitae). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change falls in intron 8 of the OTC gene. It does not directly change the encoded amino acid sequence of the OTC protein. |
Revvity Omics, |
RCV000692422 | SCV002020193 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2021-08-04 | criteria provided, single submitter | clinical testing |