Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193290 | SCV000248797 | likely pathogenic | Seizure | 2014-09-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000478850 | SCV000567067 | likely pathogenic | not provided | 2017-03-02 | criteria provided, single submitter | clinical testing | The W1812G missense variant in the SCN1A gene has been reported previously as a denovo variant in an individual with severe myoclonic epilepsy in infancy (SMEI) (Fujiwaraet al., 2003). It was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. The W1812G variant is a semi-conservativeamino acid substitution, which may impact secondary protein structure as these residuesdiffer in some properties. This substitution occurs at a position that is conserved acrossspecies, and different missense variants in the same residue (W1812S, W1812R) havebeen reported previously as de novo in association with SCN1A-related disorders(SCN1A Variant Database). In silico analysis predicts this variant is probably damaging tothe protein structure/function. Therefore, we consider the W1812G variant to be pathogenic. |
Uni |
RCV000059542 | SCV000091074 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |