ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) (rs121917750)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255820 SCV000322245 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The L1563V missense variant in the SCN2A gene has been previously reported to segregate withbenign familial neonatal-infantile seizures in large Ashkenazi Jewish family in Canada (Heron et al.,2002). Functional studies have demonstrated that L1563V causes a gain of channel function andincreases neuronal excitability in neonatal sodium channels (Misra, et al., 2008, Xu et al., 2007).This substitution alters a conserved position predicted to be in transmembrane segment S2 in thefourth homologous domain. The L1563V variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations.
OMIM RCV000013737 SCV000033984 pathogenic Benign familial neonatal-infantile seizures 2002-09-14 no assertion criteria provided literature only

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