LDB3 variants in DCM cohorts


The table below lists the 14 rare (MAF<0.0001 in ExAC) protein-altering LDB3 variants identified in a cohort of 740 DCM patients. When this rare variant frequency of 0.01892 is compared with a background population rate of 0.01122, there is a case excess of 0.00770, although this is not statistically significant for protein-altering LDB3 variants in DCM (p=0.0544).


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



No. Variant (CDS) Variant (Protein) Variant Type Cases (740)LMM class ExAC frequency
1. c.826C>T p.R276Cmissense 1VUS (1)0.000008
2. c.899C>A p.T300Nmissense 1VUS favour pathogenic (1)0.000000
3. c.343G>A p.G115Smissense 1VUS (1)0.000000
4. c.2155A>G p.K719Emissense 1VUS (1)0.000000
5. c.1475C>T p.T492Imissense 1VUS (1)0.000000
6. c.1472T>A p.V491Emissense 1VUS (1)0.000033
7. c.1320_1343del p.Ala442_Pro449delinframe 1VUS (1)0.000000
8. c.530C>A p.A177Dmissense 1VUS (1)0.000000
9. c.1910C>T p.A637Vmissense 1VUS (1)0.000065
10. c.1907G>A p.C636Ymissense 1VUS (1)0.000000
11. c.1320_1343dup p.Pro441_Ser448dupinframe 1VUS (1)0.000000

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.

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.