ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3944G>A (p.Arg1315Lys) (rs796053129)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189140 SCV000242772 pathogenic not provided 2013-10-23 criteria provided, single submitter clinical testing p.Arg1315Lys (AGA>AAA): c.3944 G>A in exon 21 of the SCN2A gene (NM_021007.2). The Arg1315Lys missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one positively charged amino acid for another. However, it alters a highly conserved position in the S4 segment of the third transmembrane domain and other missense mutations associated with epilepsy have been reported in this region of the protein. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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