ClinVar Miner

Submissions for variant NC_000002.11:g.(?_166237239)_(166239066_?)del

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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 RCV003109795 SCV003791796 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-07-19 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. This variant results in the deletion of exon 25 and part of exon 24 (c.4446_4551+1359del) of the SCN2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373).

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