A pathogenic variant is a change in DNA sequence that causes or contributes to disease. It is the preferred clinical term over “mutation,” and variants are graded by evidence under the ACMG and AMP framework as pathogenic, likely pathogenic, of uncertain significance, likely benign, or benign. Every CMT subtype in this resource results from a pathogenic variant in a single gene.
When Medicine Lost Its Compass
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
