ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) (rs1553479216)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623974 SCV000742315 pathogenic Inborn genetic diseases 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001208470 SCV001379861 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1321*) 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. ClinVar contains an entry for this variant (Variation ID: 521640). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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