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. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). This variant has not been reported in the literature in individuals with SCN2A-related disease. This variant is not present in population databases (ExAC no frequency). 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.

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