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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

A “variant of uncertain significance” or VUS is a coding change in your genes that has not been seen in enough people to thoroughly understand. We all have genetic variants that make us unique individuals. Some “variants” in your genes are normal and do not affect your health. It is also possible that a variant will eventually explain a disease in your family or increases your chance of having a child with a genetic disease.

Researchers are working to classify these variants and clarify what they mean for your family’s health. Most often a variant of uncertain significance is eventually determined to be “benign” or normal. It is a good idea to check-in with your genetics professional every few years to see if there are updates on your specific variant.