Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000627034 | SCV001198711 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2019-02-06 | 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. Experimental studies have shown that this promoter change causes a reduction of OTC transcription (PMID: 29282796). This variant has been observed in individuals affected with clinical features of OTC deficiency (PMID: 29282796, Invitae). ClinVar contains an entry for this variant (Variation ID: 487342). This variant is not present in population databases (ExAC no frequency). This variant occurs in a non-coding region of the OTC gene. It does not change the encoded amino acid sequence of the OTC protein. |
Caldovic Lab, |
RCV000627034 | SCV000612169 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2017-12-12 | no assertion criteria provided | research | The patient had clinical and biochemical symptoms of OTC deficiency, and no disease causing sequence variants in the OTC coding sequence and canonical splice sites. Functional testing in cultured cells indicates reduced expression of reporter gene |