MYH7 variants in DCM cohorts

The table below lists the 45 rare (MAF<0.0001 in ExAC) protein-altering MYH7 variants identified in a cohort of 756 DCM patients. When this rare variant frequency of 0.05952 is compared with a background population rate of 0.01398, there is a statistically significant case excess of 0.04554 (p<0.0001), which suggests that approximately 35 of these variants may be pathogenic.

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (756)LMM class ExAC frequency
1. c.1106G>A p.R369Qmissense 2Likely Pathogenic0.000000
2. c.2711G>A p.R904Hmissense 2Likely Pathogenic0.000000
3. c.2678C>T p.A893Vmissense 2VUS favour pathogenic0.000000
4. c.3856G>A p.E1286Kmissense 2Likely Pathogenic0.000016
5. c.1405G>T p.D469Ymissense 2Likely Pathogenic0.000000
6. c.1597A>G p.I533Vmissense 2Likely Pathogenic0.000000
7. c.4348G>A p.D1450Nmissense 1Likely Pathogenic0.000008
8. c.1573G>A p.E525Kmissense 1Likely Pathogenic0.000000
9. c.602T>C p.I201Tmissense 1Likely Pathogenic0.000000
10. c.4720C>T p.R1574Wmissense 1Likely Pathogenic0.000000
11. c.2171T>A p.I724Nmissense 1VUS favour pathogenic0.000000
12. c.3578G>A p.R1193Hmissense 1Likely Pathogenic0.000000
13. c.1402T>C p.F468Lmissense 1VUS favour pathogenic0.000000
14. c.1700G>A p.R567Hmissense 1Likely Pathogenic0.000016
15. c.5380C>G p.Q1794Emissense 1Likely Pathogenic0.000000
16. c.4408T>C p.S1470Pmissense 1VUS favour pathogenic0.000000
17. c.742A>T p.I248Fmissense 1Likely Pathogenic0.000000
18. c.3455A>T p.E1152Vmissense 1Likely Pathogenic0.000000
19. c.1888C>T p.P630Smissense 1VUS0.000016
20. c.1570A>G p.I524Vmissense 1Likely Pathogenic0.000000
21. c.2683C>G p.Q895Emissense 1VUS0.000000
22. c.1630A>G p.T544Amissense 1VUS0.000016
23. c.5401G>A p.E1801Kmissense 1Likely Pathogenic0.000000
24. c.2348G>C p.R783Pmissense 1Likely Pathogenic0.000000
25. c.4411C>T p.Q1471Xnonsense 1VUS favour pathogenic0.000000
26. c.1791C>A p.N597Kmissense 1Likely Pathogenic0.000000
27. c.709C>T p.R237Wmissense 1VUS0.000008
28. c.5740G>A p.E1914Kmissense 1Likely Pathogenic0.000000
29. c.835G>A p.A279Tmissense 1VUS favour pathogenic0.000000
30. c.1892T>C p.I631Tmissense 1VUS0.000016
31. c.4985G>A p.R1662Hmissense 1VUS favour pathogenic0.000057
32. c.3982G>A p.A1328Tmissense 1VUS favour pathogenic0.000043
33. c.2973G>T p.K991Nmissense 1VUS favour pathogenic0.000000
34. c.3734T>A p.L1245Qmissense 1VUS0.000000
35. c.2710C>T p.R904Cmissense 1Pathogenic0.000008
36. c.184G>A p.E62Kmissense 1VUS0.000008
37. c.734G>A p.G245Emissense 1Likely Pathogenic0.000000
38. c.4030C>T p.R1344Wmissense 1VUS favour pathogenic0.000016


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