The table below lists the 0 rare (MAF<0.0001 in ExAC) protein-altering LMNA variants identified in a cohort of 93 ARVC patients. As the background population rate of rare protein-altering LMNA variants (0.00622) is greater than this case frequency (0.00000), there is no excess of variants in this ARVC patient cohort, suggesting that protein-altering LMNA variants are not causative for ARVC.
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.