Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523928 | SCV000617482 | pathogenic | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | The c.966-2 A>G splice site variant in the SCN9A gene has been previously reported as a de novo pathogenic variant in a patient with congenital insensitivity to pain who also had a nonsense variant in the SCN9A gene (Klein et al., 2013). It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant destroys the natural splice acceptor site in intron 8, and is expected to cause abnormal gene splicing. |