ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter)

gnomAD frequency: 0.00001  dbSNP: rs1329907808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808846 SCV000948970 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2018-11-21 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 not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg824*) in the SCN9A gene. It is expected to result in an absent or disrupted protein product.

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