Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 - |
RCV000416964 | SCV000494506 | likely pathogenic | Epileptic encephalopathy | 2016-11-16 | criteria provided, single submitter | clinical testing |