ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) (rs1057520413)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436956 SCV000515383 pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The V261M pathogenic variant in the SCN2A gene has been reported previously as a de novo variant in an individual with benign familial neonatal-infantile seizures and functional studies demonstrated altered channel function (Liao et al., 2010). The V261M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V261M variant is a conservative amino acid substitution, and it alters a conserved position predicted to be within the transmembrane segment S5 of the first homologous domain. Missense variants in a nearby residue (A263T, A263V) have been reported in the Human Gene Mutation Database in association with SCN2A-related disorders (Stenson et al., 2014). Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, the presence of V261M is consistent with the diagnosis of an SCN2A-related disorder.

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