What does it mean to have a "variant of uncertain significance" in Alzheimer disease?
Some genetic changes are called "variants of uncertain significance". This means that we found a genetic change that we do not fully understand. We are not quite sure how this genetic change affects the body at this time. It may cause familial Alzheimer Disease and it may not. We need more data and research to make a conclusion about whether or not this change is disease causing. A genetic counselor or geneticist may be able to help explain what this result means for your particular situation. As we learn more, variants of uncertain significance are typically re-classified as either "disease causing" or "not disease causing." It will be important to check in every year with your healthcare provider to see if more has been learned about your variant of uncertain significance. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.