ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs)

dbSNP: rs775868908
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Total submissions: 1
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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.

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