DSC2 variants in ARVC cohorts


The table below lists the 9 rare (MAF<0.0001 in ExAC) protein-altering DSC2 variants identified in a cohort of 351 ARVC patients. When this rare variant frequency of 0.02564 is compared with a background population rate of 0.00964, there is a case excess of 0.01600, although this is not statistically significant for protein-altering DSC2 variants in ARVC (p=0.0080).


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



No. Variant (CDS) Variant (Protein) Variant Type Cases (351)OMGL class ExAC frequency
1. c.1938T>G p.Y646Xnonsense 2Likely Pathogenic0.000000
2. c.199A>G p.S67Gmissense 1VUS0.000000
3. c.2152G>A p.A718Tmissense 1VUS0.000000
4. c.1150G>C p.V384Lmissense 1VUS0.000000
5. c.2396G>A p.G799Emissense 1VUS0.000000
6. c.1766T>C p.M589Tmissense 1VUS0.000049
7. c.630G>C p.E210Dmissense 1VUS0.000000
8. c.619G>C p.E207Qmissense 1VUS0.000008

References

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.