Professional
Formal
IVT
variant of unknown significance
A genetic alteration whose clinical impact and therapeutic implications remain unclear.
Full Definition
A variant of unknown significance represents a genetic alteration identified through molecular testing for which current scientific evidence is insufficient to determine pathogenicity or clinical actionability. These variants require careful counseling as they cannot guide treatment decisions and may cause patient anxiety. Ongoing research and database updates may eventually reclassify VUS as either pathogenic or benign, requiring follow-up communication with patients and providers.
Usage
Usage note: Often abbreviated as VUS. Avoid using 'uncertain' and 'unknown' interchangeably.
In Context
- "The report identified three variants of unknown significance requiring careful patient counseling." — Genetic counseling note
- "Annual review protocols were established to monitor reclassification of variants of unknown significance." — Laboratory policy document
Also known as
VUS
variant of uncertain significance
Contrasted with
pathogenic variant
actionable mutation
Don't confuse with
pathogenic variant
benign variant