ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) (rs756119996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189221 SCV000242853 uncertain significance not provided 2014-02-21 criteria provided, single submitter clinical testing p.Val634Ala (V634A) GTG>GCG: c.1901 T>C in exon 12 of the SCN2A gene (NM_021007.2). The V634A variant in the SCN2A gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It 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. Missense mutations in this region of the protein (R575V and D649N) have been reported in an external mutation database in association with infantile seizures and Dravet syndrome, supporting the functional importance of this region of the protein. However, the V634A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution alters a position occurs in the loop between the first and second homologous domains at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. The variant is found in EPILEPSY panel(s).
Fulgent Genetics,Fulgent Genetics RCV000764279 SCV000895296 uncertain significance Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-10-31 criteria provided, single submitter clinical testing

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