Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697073 | SCV000825663 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2017-08-01 | criteria provided, single submitter | clinical testing | 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 not been reported in the literature in individuals with SCN9A-related disease. This variant is present in population databases (rs753900410, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Ile848Metfs*5) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. |