When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
Additionally, healthcare workers find it difficult to communicate VUS results, and clients generally have difficulty understanding the implications of a VUS, especially if their literacy levels are low.
A VUS may be reclassified as benign after research reveals that numerous people without cancer in the general population carry this variant, or computer models show that it has no significant impact on genetic functioning.
If many people with a certain VUS do not have a disease, they’ll determine it is benign. If a significant number of people with a VUS have the same disease, they’ll classify it as pathogenic.
What Is a VUS? Variants of Unknown Significance in Genetic Testing and ...
When we do not have enough information to know whether a variant is or is not associated with a given condition, the variant is considered a variant of uncertain significance (VUS). Importantly, just because a variant is new does not mean it is a VUS. Instead, certain rules are used to sort variants into categories along the spectrum of VUS, benign, or pathogenic. It is important to note that ...
Figuring out if a VUS falls more on the benign or pathogenic side is the first step in determining how to discuss it with a patient and whether to pursue further investigation.
Some people, like you, have a Variant of Uncertain Significance (VUS) which is a genetic change that the laboratory cannot interpret. VUS cannot be categorized as potentially disease causing or harmless because the meaning of this type of genetic change is not yet known.