ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) (rs181327458)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189195 SCV000242827 pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing The R275X 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 R275X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R275X as a pathogenic variant.
Invitae RCV000640632 SCV000762226 pathogenic Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg275*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with seizures (Invitae). ClinVar contains an entry for this variant (Variation ID: 207041). Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). For these reasons, this variant has been classified as Pathogenic.

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