PKP2 non-truncating variants in ARVC cohorts

The table below lists the 6 rare (MAF<0.0001 in ExAC) non-truncating PKP2 variants identified in a cohort of 361 ARVC patients. When this rare variant frequency of 0.01662 is compared with a background population rate of 0.01280, there is a case excess of 0.00382, although this is not statistically significant for non-truncating PKP2 variants in ARVC (p=0.4767).

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

No. Variant (CDS) Variant (Protein) Variant Type Cases (361)OMGL class ExAC frequency
1. c.2540T>C p.L847Pmissense 1VUS0.000000
2. c.1114G>A p.A372Tmissense 1VUS0.000008
3. c.2393C>G p.T798Rmissense 1VUS0.000000
4. c.68G>A p.G23Emissense 1VUS0.000000
5. c.941G>A p.G314Emissense 1VUS0.000057
6. c.2062T>C p.S688Pmissense 1VUS0.000032


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.