ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1267G>T (p.Val423Leu)

dbSNP: rs796053180
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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 RCV001384844 SCV001584494 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 423 of the SCN2A protein (p.Val423Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Ohtahara syndrome (PMID: 28379373). In at least one individual the variant was observed to be de novo. Experimental studies have shown that this variant affects SCN2A protein function (PMID: 28379373). For these reasons, this variant has been classified as Pathogenic.

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