In a study of 55 French individuals with bronchiectasis, this variant was seen in one female of African origin. It was not seen in 55 “ethnically matched Caucasian controls”. The patient had an abnormal basal nasal PD, but this variant has been seen in other studies in controls. The authors conclude that there may be weak gain of function (dominant) effect similar to that of Liddle’s Syndrome, and this effect may be too slight to be detected through functional assays involving Xenopus cells. OR = 1, p-value 1.