A variant is any change in the DNA sequence of a gene compared with the usual reference sequence. Variants can be harmful, harmless, or beneficial, and they may be inherited or arise anew. In CMT genetic testing, the change identified in a gene is referred to as a variant, and it is then classified by its likely effect, such as pathogenic or a VUS. Variant is the modern term for what was long called a mutation.
A Name That Does Too Much Work
Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.
