ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) (rs1057520844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433186 SCV000518391 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the SCN2A gene. The R1635Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1635Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a conserved position within the transmembrane segment S4 voltage sensor of the fourth homologous domain. A missense variant in a nearby residue (G1634V) has been reported in the Human Gene Mutation Database in association with an SCN2A-related disorder (Stenson et al., 2014). Additionally, in silico analysis predicts the R1635Q variant is probably damaging to the protein structure/function.

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