The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering DES variants identified in a cohort of 93 ARVC patients. When this rare variant frequency of 0.03226 is compared with a background population rate of 0.00472, there is a case excess of 0.02754, although this is not statistically significant for protein-altering DES variants in ARVC (p=0.0101).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (93)▼ | OMGL class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.991T>A | p.Y331N | missense | 1 | VUS | 0.000000 |
| 2. | c.72C>A | p.F24L | missense | 1 | VUS | 0.000000 |
| 3. | c.365A>G | p.Y122C | missense | 1 | Likely Pathogenic | 0.000000 |
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.