The table below lists the 2 rare (MAF<0.0001 in ExAC) protein-altering PKP2 variants identified in a cohort of 304 DCM patients. As the background population rate of rare protein-altering PKP2 variants (0.01358) is greater than this case frequency (0.00658), there is no excess of variants in this DCM patient cohort, suggesting that protein-altering PKP2 variants are not causative for DCM.
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (304)▼ | OMGL class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.2447C>G | p.T816S | missense | 1 | VUS | 0.000000 |
| 2. | c.2623G>T | p.A875S | missense | 1 | VUS | 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.
2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.