The results of the genetic testing returned with two gene variants: xxx and xxx both of which are classified as VUS (Variants of uncertain significance.)
Variant of Uncertain Significance (VUS) is a genetic result that the laboratory cannot interpret as either disease causing (pathogenic) or not causing the disease (non-pathogenic). Typically, more information is required to determine if these variants are disease related. At this time there is not enough data or information to interpret the exact meaning of the result. The classification of these variants may change over time as more information is obtained. If that happens the report will be updated or reclassified as disease causing or not disease causing.
A VUS is neither good nor bad in terms of your future health.
For many people, their VUS may remain a big question mark for a long time. It is very difficult to gather enough information about any one VUS to be able to put it in a different category. Some laboratories will issue a revised report if they learn how to interpret your VUS. But don’t count on this. Once a year or so you could ask your health care provider to check to see if there is any new information on your VUS. For some genes in some labs, testing of your relatives may be offered at no charge to help the scientists learn more about this gene. If interested, ask your health care provider about this. In your case the VUS in *** does not fit the clinical profie.
Variant of unknown significance: In some cases, genetic testing finds a “variant of unknown significance,” or VUS. This means there is a portion of the gene that looks different from the way it's normally expected to look. However, researchers haven't yet confirmed whether this variant is a harmless change or a risk factor for developing a condition/disease. The variant remains on a “watch list” as researchers collect information to determine whether or not people who have it are at increased developing a condition. However, I follow the recommendation of the American College of Medical Genetics and do not feel VUS results change how you are treated. If you have family members with the same VUS, we will track that and discuss further.
Genetic testing involves completing a "spell check" of selected genes within the body in order to identify spelling changes, called variants, in the genetic code that may predispose to health issues or human disease. Whenever the laboratory identifies a gene variant, they must then classify or categorize that variant based on its impact to health. Changes known to cause disease risk are classified as pathogenic variants (mutations) and are considered positive results that can be used to guide risk assessment and medical management. Some changes to the spelling of our genes are benign variants that are not reported by the laboratory as these benign changes do not cause health problems and are not medically actionable. For some gene variants, the laboratory is unable to classify them as either positive or negative based on available evidence and in such cases, the finding is classified as a Variant of Uncertain Significance (VUS). A VUS is considered an inconclusive genetic test result.