ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) (rs766212849)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527936 SCV000649299 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu807Phefs*38) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766212849, ExAC 0.009%). This variant has not been reported in the literature in individuals with SCN9A-related disease. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000680094 SCV000807535 pathogenic Indifference to pain, congenital, autosomal recessive 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a 1-year-old male with pain insensitivity & febrile generalized tonic-clonic seizures

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