TTN truncating variants in DCM cohorts

The table below lists the 22 rare (MAF<0.0001 in ExAC) truncating TTN variants identified in a cohort of 156 DCM patients. When this rare variant frequency of 0.14103 is compared with a background population rate of 0.00876, there is a statistically significant case excess of 0.13227 (p<0.0001), which suggests that approximately 21 of these variants may be pathogenic.

Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (156)LMM class ExAC frequency
1. c.57995delA p.His19332ProfsX18frameshift 3Likely Pathogenic0.000000
2. c.46782C>A p.Tyr15594Xnonsense 1Likely Pathogenic0.000000
3. c.73845delA p.Glu24615AspfsX9frameshift 1Likely Pathogenic0.000000
4. c.11657delA p.Asp3886ValfsX22frameshift 1VUS favour pathogenic0.000000
5. c.46773T>A p.Tyr15591Xnonsense 1Likely Pathogenic0.000000
6. c.102949C>T p.Gln34317Xnonsense 1Likely Pathogenic0.000000
7. c.90587delA p.Lys30196ArgfsX94frameshift 1Likely Pathogenic0.000000
8. c.86821+2T>A essential splice site 1Likely Pathogenic0.000008
9. c.45307C>T p.Arg15103Xnonsense 1Likely Pathogenic0.000000
10. c.57215delG p.Gly19072GlufsX12frameshift 1Likely Pathogenic0.000000
11. c.77421_77422insC p.Ser25808GlnfsX19frameshift 1Likely Pathogenic0.000000
12. c.41610delA p.Val13871SerfsX7frameshift 1Likely Pathogenic0.000000
13. c.69458_69461dupAGAA p.Asn23154LysfsX14frameshift 1Likely Pathogenic0.000000
14. c.3034C>T p.Arg1012Xnonsense 1Likely Pathogenic0.000000
15. c.46069_46070delAT p.Met15357ValfsX4frameshift 1Likely Pathogenic0.000000
16. c.93897delT p.Phe31299LeufsX14frameshift 1Likely Pathogenic0.000000
17. c.57847+1G>A essential splice site 1Likely Pathogenic0.000000
18. c.89197_89197+2delGGT essential splice site 1Likely Pathogenic0.000000
19. c.12587C>A p.S4196Xnonsense 1VUS favour pathogenic0.000016
20. c.44364delC p.Tyr14789ThrfsX15frameshift 1Likely Pathogenic0.000000


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