VUS

VUS or Variant of Uncertain Significance is a term used in genetic testing to denote a variant in the genetic sequence that has an unknown effect on the health or development of an individual. The term is often used when the clinical significance of a variant is not yet established.

Overview

In the field of genetics, a variant is a change in the DNA sequence. Most variants are benign and do not cause disease. However, some variants can be pathogenic and lead to genetic disorders. When a variant is identified through genetic testing, it is classified based on the evidence available. If there is not enough evidence to determine whether the variant is benign or pathogenic, it is classified as a Variant of Uncertain Significance (VUS).

Implications

A VUS does not provide clear information about an individual's risk of developing a certain disease. Therefore, it is not used to make clinical decisions. However, as more research is conducted and more information becomes available, a VUS may be reclassified into a benign or pathogenic variant.

Management

When a VUS is identified, it is recommended to conduct family studies to gather more information. This can help to determine whether the variant is inherited or occurred de novo. In addition, it is important to continue monitoring the literature and databases for new information about the variant.

See also

• Genetic testing
• DNA sequencing
• Genetic disorder
• Genetic variation

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