Hereditary Hemorrhagic Telangiectasia and ACVRL1  

Initial release: January 2011
Last update: March 2021

The purpose of this database is to document all known ACVRL1 gene variants including sequence based changes and large deletion/duplications that have been linked to Hereditary Hemorrhagic Telangiectasia (HHT), as well as available associated clinical information and relevant citations. The Genebank sequences NC_000012.11 and NM_000020.2 were used as reference sequences.

The basis for classification of variants with regards to clinical significance (benign, suspected benign, uncertain, suspected pathogenic, pathogenic) is varied and should be regarded as such. In general it is based on the opinion of the laboratory or laboratories reporting the mutation directly to the database, or via publication. If no classification is given this means that the available publications and other evidence have not been reviewed with regards to clinical significance for the purpose of classification in this database. Our goal is to provide available information regarding a mutation so that database users can evaluate the evidence for disease causation.

Database Information

The ACVRL1 database currently has 572 total entries.



Citations

When using this resource in publications please link to:

http://arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php

ARUP offers the following testing for HHT:

  • HHT PANEL: Sequencing and Deletion/Duplication (test 2009337)
  • HHT Familial Mutation, Targeted Sequencing (test 2001961)