DEPDC5 and fleck corneal dystrophy: Whilst most pathogenic variants in DEPDC5 are truncating, some missense variants are also established as disease-causing, and have been identified in individuals with FCD.41–44 This variant is encountered in seven individuals in gnomAD, corresponding to an allele frequency of 0.00005, considered to be within the pathogenic range,45 and is absent from an ancestry-matched population database (n = 800).46 The penetrance of DEPDC5-related epilepsies is estimated to be around 60%,47 and therefore the presence of this variant at low numbers within a population database would not be unexpected.