JUP variants in ARVC cohorts

The table below lists the 8 rare (MAF<0.0001 in ExAC) protein-altering JUP variants identified in a cohort of 94 ARVC patients. When this rare variant frequency of 0.08511 is compared with a background population rate of 0.01196, there is a statistically significant case excess of 0.07315 (p<0.0001), which suggests that approximately 7 of these variants may be pathogenic.

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

No. Variant (CDS) Variant (Protein) Variant Type Cases (94)OMGL class ExAC frequency
1. c.530G>A p.R177Qmissense 1VUS0.000025
2. c.1715G>A p.R572Qmissense 1VUS0.000016
3. c.296C>T p.S99Lmissense 1VUS0.000045
4. c.529C>T p.R177Wmissense 1VUS0.000051
5. c.1915G>A p.E639Kmissense 1VUS0.000000
6. c.1577G>A p.R526Hmissense 1VUS0.000032
7. c.251G>A p.R84Qmissense 1VUS0.000033
8. c.412G>A p.E138Kmissense 1VUS0.000019


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.