Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180824 | SCV000221788 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Gene |
RCV000428290 | SCV000517386 | pathogenic | not provided | 2015-06-24 | criteria provided, single submitter | clinical testing | The K225N missense variant in the SCN1A gene has been reported previously in association with Dravetsyndrome (Xu et al., 2013). This substitution alters a highly conserved position predicted to be within thetransmembrane segment S4 of the first homologous domain of the SCN1A protein, and many other missensevariants have been reported in this region of the protein in association with SCN1A-related disorders(SCN1A Variant Database). The K225N variant is a semi-conservative amino acid substitution, which mayimpact secondary protein structure as these residues differ in some properties, and in silico analysis predictsthis variant is probably damaging to the protein structure/function. Therefore, we interpret this variant as pathogenic. |