Pathogenic Variant
Definition
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does not guarantee that a person will develop the specific condition but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur spontaneously due to factors such as environmental exposure and aging.
Narration
In mitochondrial disease, pathogenic variants may occur in the nuclear genome or mitochondrial genome. Pathogenic nuclear variants may be inherited in an autosomal dominant, autosomal recessive, or X-linked fashion. Pathogenic mitochondrial variants are inherited in a matrilineal fashion.
