Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805408 | SCV000945362 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2018-11-20 | criteria provided, single submitter | clinical testing | 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 (rs775868908, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Phe589Cysfs*25) 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. |