Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414106 | SCV000492283 | uncertain significance | not provided | 2016-11-28 | criteria provided, single submitter | clinical testing | The c.354G>A variant in the OTC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In silico algorithms do not predict the natural splice donor site of intron 4, however a cryptic splice donor site in exon 4 is predicted and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.354G>A in this individual is unknown. The c.354G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.354G>A as a variant of uncertain significance. |