ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) (rs387906686)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189193 SCV000242825 pathogenic not provided 2017-06-05 criteria provided, single submitter clinical testing The A263V pathogenic variant in the SCN2A gene was initially reported as a de novo change in an individual with neonatal seizures and childhood-onset episodic ataxia, myoclonia, and pain (Liao et al., 2010). It was also reported as a de novo variant in monozygotic twins with Ohtahara syndrome (Touma et al., 2013). Functional analysis indicates A263V is a gain-of-function variant leading to neuronal hyperexcitability (Liao et al., 2010). This substitution alters a conserved position predicted to be in transmembrane segment S5 in the first homologous domain of the protein. A263V was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, A263V is interpreted to be a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000118251 SCV000152618 pathogenic Benign familial neonatal-infantile seizures 2013-08-06 criteria provided, single submitter clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416960 SCV000494503 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
OMIM RCV000022769 SCV000044058 pathogenic Early infantile epileptic encephalopathy 11 2010-10-19 no assertion criteria provided literature only
Undiagnosed Diseases Network,NIH RCV000625995 SCV000746601 pathogenic SCN2A-related condition 2017-11-12 criteria provided, single submitter clinical testing

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