ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) (rs796053135)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189148 SCV000242780 pathogenic not provided 2014-06-12 criteria provided, single submitter clinical testing p.Ile1346Val (ATC>GTC): c.4036 A>G in exon 22 of the SCN2A gene (NM_021007.2). The I1346V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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 substitution occurs in transmembrane segment S5 in the third homologous domain at a position that is conserved across species, and in silico analysis predicts it 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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