ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) (rs1553571901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760475 SCV000890364 pathogenic not provided 2018-10-12 criteria provided, single submitter clinical testing The R583X nonsense variant in the SCN2A gene has been reported previously as a de novo change in an individual with autism (Codina-Solà et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R583X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is classified as pathogenic.

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