ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) (rs121917753)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444205 SCV000515959 pathogenic not provided 2015-03-26 criteria provided, single submitter clinical testing The R1319L variant in the SCN2A gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The R1319L substitution was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The R1319L variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silicoanalysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (R1319Q) has been reported previously in multiple families with benign familialneonatal-infantile seizures (BFNIS), and was shown to be de novo in one of these individuals (Berkovic etal., 2004). We interpret R1319L as a pathogenic variant.

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