ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter)

dbSNP: rs142219317
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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 RCV001390706 SCV001592507 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2020-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr792*) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN9A-related conditions. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). For these reasons, this variant has been classified as Pathogenic.

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