What are variants of unknown significance and possible disease variants?
A genetic variation (or variant) of unknown significance may or may not be associated with disease. A possible disease variant is suspected to be associated with disease, but this association remains quite uncertain. More information is needed to clarify the significance of such genetic variations. Over time, this information may become available in the literature. Genetic testing of affected individuals within the patient’s extended family (known as concordance testing) may also yield this information. If all affected family members harbor the genetic variation in question, it is likely to be associated with the familial disease. If some affected family members do not harbor the genetic variation in question, it is less likely to be associated with the familial disease. Clarifying the significance of a genetic variation through concordance testing not only benefits this particular family, but also other families who harbor the same genetic variation.
