ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) (rs1064794005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478692 SCV000567565 pathogenic not provided 2015-07-30 criteria provided, single submitter clinical testing The S1758R substitution in the SCN2A gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The S1758R variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common variant in these populations. The S1758R variant is a semi-conservativeamino acid substitution at a position that is conserved across species. The S1758R substitution is located inthe transmembrane segment S6 of the fourth homologous domain of the SCN2A protein. In silico analysispredicts this variant is probably damaging to the protein structure/function. We interpret S1758R as apathogenic variant.

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