ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.962_970+1del

dbSNP: rs1559353540
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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 RCV000703010 SCV000831889 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2018-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu321Valfs*6) 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. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168).

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