DSC2 truncating variants in ARVC cohorts

DSC2 gene summary
Overview of DSC2 in ARVC

The table below lists the 2 rare (MAF<0.0001 in ExAC) truncating DSC2 variants identified in a cohort of 351 ARVC patients. When this rare variant frequency of 0.00570 is compared with a background population rate of 0.00026, there is a statistically significant case excess of 0.00544 (p=0.0048), which suggests that approximately 2 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 (351)▼OMGL class ExAC frequency
1. c.1938T>G p.Y646Xnonsense 2Likely Pathogenic0.000000

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.