variant of uncertain significance
Also written as: VUS — variant of uncertain significance
A genetic alteration whose impact on protein function and clinical significance cannot be definitively determined.
Full Definition
Variants of uncertain significance (VUS) represent genetic changes where current evidence is insufficient to classify them as pathogenic or benign. In oncology informatics, VUS classification follows guidelines from the Association for Molecular Pathology and presents challenges for clinical interpretation. These variants require ongoing surveillance as new evidence emerges. Editorial teams must understand that VUS reporting requires careful language to avoid overinterpretation by clinicians and patients.
Usage
Usage note: Prefer full term in formal documents; VUS acceptable in informal contexts but define on first use.
In Context
- "The laboratory classified the novel BRCA2 missense mutation as a variant of uncertain significance pending functional studies." — Genetic counseling report
- "Updated classification guidelines have reclassified 23% of historical variants of uncertain significance as likely benign." — Laboratory quality assurance document