Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760452 | SCV000890338 | likely pathogenic | not provided | 2025-02-06 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 44 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 2492100, 1737786, 31589614) |
Labcorp Genetics |
RCV000000172 | SCV001394493 | pathogenic | Ornithine aminotransferase deficiency | 2023-07-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the OAT protein in which other variant(s) (p.Arg426*) have been determined to be pathogenic (PMID: 7887415, 23076989). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 149). This premature translational stop signal has been observed in individual(s) with gyrate atrophy (PMID: 1737786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg396*) in the OAT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the OAT protein. |
Baylor Genetics | RCV000000172 | SCV004192219 | pathogenic | Ornithine aminotransferase deficiency | 2024-02-20 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV004814786 | SCV005072047 | pathogenic | Retinal dystrophy | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000000172 | SCV005669885 | likely pathogenic | Ornithine aminotransferase deficiency | 2024-04-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000172 | SCV000020315 | pathogenic | Ornithine aminotransferase deficiency | 1992-02-15 | no assertion criteria provided | literature only |