NF1 and breast carcinoma: Although this NF1 variant exhibits a high CADD score (24.6), has been reported in one case of lung cancer (Redig et al. 2016), and is located within the cysteine-serine–rich domain, a region where several missense mutations associated with breast cancer and neurofibromatosis have been identified (Koczkowska et al. 2018), its pathogenic status—and potential for positive selection—remains uncertain.