Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209835 | SCV001381287 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2020-09-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1493Serfs*8) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). This variant has been observed in an individual affected with autosomal recessive congenital insensitivity to pain (PMID: 20635406). This variant is not present in population databases (ExAC no frequency). |