The patient (case 37) carrying a previously unreported variant TSC1 p.Ala428fs presented clinical symptoms compatible with tuberous sclerosis, such as hypomelanotic macules and shagreen patches, facial angiofibroma and ungual fibroma, renal cysts, idiopathic kidney failure, and childhood-onset epilepsy (Table 2). This evidence concerns the gene TSC1 and cystic kidney disease.