Advanced
Technical
In the Industry Vocabulary Test
variant of uncertain significance
Genetic variants identified through screening whose clinical significance is not yet established.
Full Definition
Genetic variants detected through molecular screening methods where the relationship to disease phenotype remains unclear. These findings require careful clinical correlation and may necessitate long-term monitoring to determine their significance. The identification of such variants presents challenges for clinical decision-making and family counseling.
Usage
Usage note: Always explain the uncertainty and monitoring implications to families.
In Context
- "The variant of uncertain significance requires ongoing clinical monitoring." — Genetic consultation note
- "Laboratory policies should address reporting of variants of uncertain significance." — Technical procedure document
Also known as
VUS
uncertain variant
Contrasted with
pathogenic variant
benign variant
Don't confuse with
carrier status
mild phenotype