WCN25-3490 THE POPULATION FREQUENCY OF TUBEROUS SCLEROSIS IN THE GENERAL POPULATION

Tuberous sclerosis is an autosomal dominant genetic disease caused by pathogenic TSC1 and TSC2 variants and characterised clinically by angiomyolipoma, and sometimes seizures, intellectual disability and kidney disease. Estimates of its population frequency vary from one in 2315 to one in 18,000 but angiomyolipomas occur in up to 2% of the population. The aim of this study was to determine a more accurate population frequency for Tuberous Sclerosis from the number of pathogenic variants in a normal population.