ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) (rs796053130)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189141 SCV000242773 pathogenic not provided 2014-09-18 criteria provided, single submitter clinical testing p.Ala1316Val (GCT>GTT): c.3947 C>T in exon 21 of the SCN2A gene (NM_021007.2). The A1316V variant 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. The A1316V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a highly conserved position in the predicted transmembrane segment S4 of the third homologous domain and in silico analysis predicts this variant is probably damaging to the protein structure/function. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416964 SCV000494506 likely pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing

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