Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000083383 | SCV000779382 | pathogenic | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25011434, 25525159, 17041896, 10946359, 30285816, 1671317, 12083811, 11117428, 32712949) |
Invitae | RCV001854456 | SCV002221678 | pathogenic | Ornithine carbamoyltransferase deficiency | 2023-06-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 97151). This premature translational stop signal has been observed in individual(s) with OTC-related conditions (PMID: 1671317, 30285816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg92*) in the OTC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). |
Baylor Genetics | RCV001854456 | SCV003835038 | pathogenic | Ornithine carbamoyltransferase deficiency | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Gen |
RCV000083383 | SCV000115469 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |