pathogenic variant

Pronunciation:(PA-thoh-JEH-nik VAYR-ee-unt)

Definition: A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called deleterious mutation, disease-causing mutation, predisposing mutation, and susceptibility gene.GeneticsHealth professional