TMEM43 variants in ARVC cohorts

The table below lists the 0 rare (MAF<0.0001 in ExAC) protein-altering TMEM43 variants identified in a cohort of 94 ARVC patients. As the background population rate of rare protein-altering TMEM43 variants (0.00730) is greater than this case frequency (0.00000), there is no excess of variants in this ARVC patient cohort, suggesting that protein-altering TMEM43 variants are not causative for ARVC.

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      OMGL


1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.