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Genetic Testing and Counseling · USMLE Step 1

In the context of genetic testing and counseling, what is a variant of uncertain significance (VUS)?

  1. A genetic variant already known to reliably cause the disease
  2. A common benign polymorphism found throughout the population
  3. A genetic variant whose clinical impact is currently unclear
  4. A random sequencing artifact introduced during laboratory analysis
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Correct answer: A genetic variant whose clinical impact is currently unclear

A VUS is a genetic variant whose association with disease is not yet established — its pathogenicity is unknown, so results must be interpreted cautiously and in clinical context. These are commonly addressed in counseling.

Difficulty: Medium Question 10 of 20

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