ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro)

dbSNP: rs1057517854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413157 SCV000490896 likely pathogenic not provided 2015-11-09 criteria provided, single submitter clinical testing The S214P variant in the SCN2A gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The S214P variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The S214P variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved in mammals. In silico analysis predicts this variant is probably damaging tothe protein structure/function. Missense variants in nearby residues (V208E, G211D, N212D, V213D,R223Q) have been reported in the Human Gene Mutation Database in association with SCN2A-relatedseizure disorders (Stenson et al., 2014), supporting the functional importance of this region of theprotein. The S214P variant is a strong candidate for a pathogenic variant.
Neurology Department, Shenzhen Children's Hospital RCV001848732 SCV002099491 pathogenic West syndrome 2022-02-16 no assertion criteria provided clinical testing

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