ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel

Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We created a ClinGen Variant Curation Expert Panel and adapted the ACMG/AMP recommendations for sequence variant classification for each of these genes.