ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) (rs1553579225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502637 SCV000596973 pathogenic Early infantile epileptic encephalopathy 11 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000796982 SCV000936518 pathogenic Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg856*) 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 de novo in an individual affected with autism spectrum disorder (PMID: 27824329). ClinVar contains an entry for this variant (Variation ID: 436662). 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.
Mendelics RCV000986853 SCV001135996 likely pathogenic Benign familial neonatal-infantile seizures 2019-05-28 criteria provided, single submitter clinical testing

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