ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5065G>C (p.Val1689Leu) (rs796053161)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189175 SCV000242807 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing p.Val1689Leu (GTT>CTT): c.5065 G>C in exon 27 of the SCN2A gene (NM_021007.2). A variant of unknown significance has been identified in the SCN2A gene. The V1689L variant 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 substitution alters a conserved residue in the extracellular loop between the S5 and S6 transmembrane segments of the fourth homologous domain. However, in silico analysis predicts this variant likely does not alter the protein structure/function, and V1689L is a conservative amino acid substitution which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant The variant is found in INFANT-EPI panel(s).

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