ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) (rs1553567864)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520182 SCV000616988 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The A240V variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a different missense change at this residue (A240S) has been reported as pathogenic in the Human Gene Mutation Database in association with epilepsy of infancy with migrating focal seizures (Stenson et al., 2014). The A240V variant is not observed in large population cohorts (Lek et al., 2016). The A240V variant is a conservative amino acid substitution, which occurs at a conserved position predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the first homologous domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, A240V has been observed at GeneDx as a de novo variant with confirmed parentage. Therefore, A240V is interpreted to be a pathogenic variant.

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