MYH7 non-truncating variants in DCM cohorts

The table below lists the 25 rare (MAF<0.0001 in ExAC) non-truncating MYH7 variants identified in a cohort of 559 DCM patients. When this rare variant frequency of 0.04472 is compared with a background population rate of 0.01350, there is a statistically significant case excess of 0.03122 (p<0.0001), which suggests that approximately 18 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 (559)OMGL class ExAC frequency
1. c.532G>A p.G178Rmissense 2Likely Pathogenic0.000000
2. c.431G>T p.G144Vmissense 2Likely Pathogenic0.000000
3. c.5530G>A p.E1844Kmissense 2VUS0.000008
4. c.4300C>T p.R1434Cmissense 2Likely Pathogenic0.000000
5. c.728G>A p.R243Hmissense 1Likely Pathogenic0.000008
6. c.3464G>A p.G1155Emissense 1VUS0.000000
7. c.5329G>A p.A1777Tmissense 1VUS0.000041
8. c.2015G>T p.C672Fmissense 1Likely Pathogenic0.000000
9. c.4643A>T p.E1548Vmissense 1VUS0.000000
10. c.2456G>A p.R819Qmissense 1VUS0.000008
11. c.4048G>A p.E1350Kmissense 1VUS0.000000
12. c.2455C>T p.R819Wmissense 1VUS0.000000
13. c.3284A>G p.E1095Gmissense 1VUS0.000000
14. c.589G>A p.V197Imissense 1VUS0.000016
15. c.4638G>T p.E1546Dmissense 1VUS0.000000
16. c.1045A>G p.M349Vmissense 1VUS0.000024
17. c.5020G>T p.V1674Lmissense 1VUS0.000000
18. c.4004C>T p.S1335Lmissense 1VUS0.000033
19. c.2441T>G p.I814Smissense 1VUS0.000000
20. c.2682A>C p.E894Dmissense 1VUS0.000000
21. c.541G>A p.G181Rmissense 1Likely Pathogenic0.000008


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