ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)

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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 RCV003803930 SCV004589780 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala344Glnfs*11) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373).

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