ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) (rs1085307500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489763 SCV000576593 pathogenic not provided 2017-04-26 criteria provided, single submitter clinical testing The R1235X pathogenic variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1235X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1235X as a pathogenic variant.

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