ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter)

dbSNP: rs1574731232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824384 SCV000965280 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1450*) in the SCN2A 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 SCN2A-related disease. 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 SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). For these reasons, this variant has been classified as Pathogenic.

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