Variants of Unknown Significance (VUS)

 
A variant of unknown significance is a DNA change where there is too little information in the scientific community to say for sure whether the change causes disease or not.  
A variant of unknown significance can not be used to rule out or confirm a diagnosis. 
Because we learn more about genetic disease everyday, new information may become available that helps figure out if your uncertain DNA change may be causing disease. 
This information is commonly searched for in ClinVar (centralized clinical database of DNA changes) or in published research articles that can be searched for in google scholar, pubmed or pubmed central
Part of what helps improve diagnostics is finding enough people with the same DNA change and the same or similar symptoms. This tends to happen slowly because not everything will be reported to ClinVar or the literature. 
 
Lamar Health helps centralize information on rare genetic disease from patients using our services, clinical databases and information input by clinicians in real-time. We perform monthly checks in ClinVar, the published medical literature and its internal database to see if any new information on your condition has been found.
 
Know right away by checking out the Lamar Health’s updates for variants of unknown signficance.

Eesha Sharma

Written By: Eesha Sharma

Genetics Ph.D., Stanford Alumni

Sister of Rare Disease Patient

CEO, Founder

Lamar Health