vus

VUS is an acronym most commonly encountered in human genetics as Variant of Uncertain Significance. In genetic testing, a VUS is a genetic variant for which there is insufficient or conflicting evidence to assign a clear role in disease.

Variants are identified through DNA sequencing and interpreted using standardized frameworks that categorize them as pathogenic, likely pathogenic, benign, likely benign, or VUS. A VUS indicates that current data do not support a conclusion about disease risk, penetrance, or inheritance for that specific variant. They may be rare and observed in a single individual or family, or lack functional or clinical correlates.

Clinical implications of a VUS can be limited. Generally, a VUS does not by itself determine medical management, and decisions are guided by the overall clinical context, family history, and additional testing where appropriate. Clinicians may consider segregation analysis within families, population frequency data, in silico predictions, and functional studies as evidence accrues. Reclassification can occur as more data become available in genetic databases and scholarly research, which may change a VUS to likely benign, benign, or pathogenic/likely pathogenic. Patients are typically counseled about the uncertainty and advised not to alter treatment plans based on a VUS alone.

Other uses of the acronym VUS exist in different fields, where it may stand for distinct terms. Because acronyms are context-dependent, the precise meaning should be determined from the relevant domain.