MODULE 1

Background information about genetics

What is a genetic variant?

GENETIC VARIANTS are also known as gene changes or mutations. These are changes in the DNA instructional code of our genes. 

Genetic variants can have different effects on a person's chance of developing certain diseases.

PATHOGENIC variants have a harmful effect on the gene. These are also called disease-causing variants.

BENIGN variants have neutral or no effect on the gene.

Variants of UNCERTAIN SIGNIFICANCE (VUS) have an uncertain or unknown impact on the gene.