ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs)

dbSNP: rs1693682030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209835 SCV001381287 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1493Serfs*8) 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. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). This variant has been observed in an individual affected with autosomal recessive congenital insensitivity to pain (PMID: 20635406). This variant is not present in population databases (ExAC no frequency).

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