Welcome to the VUS Notifier

There are over 6,000 identified genetic Rare Diseases (RD) around the world. Over 80% of RD are genetic and therefore genetic testing is performed to reach diagnosis, guide the treatment of disease and enable genetic counseling in the family.

Variants identified during genetic testing must be classified for pathogenicity with association to one or more diseases and modes of inheritance for a given gene. Classification is based on integration of different types of evidence and it is performed according to the ACMG guidelines. More than one third of known genetic variants are Variants of Uncertain Significance (VUS) meaning that currently there is not enough scientific evidence to classify them as pathogenic or benign. They will stay VUS until enough evidence is collected.

If you are holding a genetic report which resulted in detection of a germline VUS you are in the right place.

VUS Notifier is a powerful tool designed for research purposes, allowing you to be notified updated on germline VUS classification changes.

Explore any germline variant in the HGVS format. Proceed to register or login and start exploring genetic variants with ease. Stay informed about the latest research developments!

Features:

VUS notifier can be used by geneticists, medical doctors or patients to get notification about VUS.

• Search Variants: Easily search for variants by entering information available in the genetic testing report.
• Save to Watchlist: Save variants to your watchlist and receive notifications about updates. Notifications are sent out whenever new scientific evidence is reported.
• Variant information is pulled from multiple databases:
• ClinVar database - ClinVar is a freely accessible, public archive of reports of human variations classified for diseases, with supporting evidence.
• Ensembl Variant Effect Predictor (VEP) - VEP is a freely accessible computational predictor of genetic variant’s effect on a protein sequence.
• Leiden Open Variation Database (LOVD) - LOVD is a freely available tool for gene-centered collection and display of DNA variants.
• PubMed - is a free resource supporting the search and retrieval of biomedical literature.

Disclaimer

Please note that this application is intended for informational purposes only and should not be used for direct diagnostic use as a decision-making tool in medical practice without review by a genetics professional and/or health care professional. Individuals should not change their health behavior solely on the basis of information received from the VUS notifier. IMGGE does not independently verify the submitted information.

VUS notifier is provided free of charge to the rare disease community. This is a non-for-profit application which is entirely based on freely available data resources, integrates them and provides notification service to the rare disease community. However, maintaining the software and keeping the servers running, is not for free. Please consider supporting our work through a donation to IMGGE. After we receive enough for yearly maintenance we stop receiving donations.

This application was created by the Institute of molecular genetics and genetic engineering, University of Belgrade with the support of funding from the SAIGE project.