ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) (rs796053166)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521033 SCV000619131 pathogenic not provided 2017-07-18 criteria provided, single submitter clinical testing The R1882X 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 through protein truncation, as the last 126 amino acids are lost. Furthermore, the R1882X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of the R1882X pathogenic variant is consistent with the diagnosis of an SCN2A-related disorder in this individual.

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