ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4157G>A (p.Cys1386Tyr)

dbSNP: rs1057523734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422482 SCV000533140 likely pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing The C1386Y variant in the SCN2A gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The C1386Y variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The C1386Y variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs withinthe pore forming loop between the S5 and S6 transmembrane segments at a position that is conservedacross species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. The C1386Y variant is a strong candidate for a pathogenic variant however thepossibility it may be a rare benign variant cannot be excluded.

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