TPM1 non-truncating variants in DCM cohorts

The table below lists the 19 rare (MAF<0.0001 in ExAC) non-truncating TPM1 variants identified in a cohort of 1111 DCM patients (355 patients from OMGL, 756 patients from LMM). When this rare variant frequency of 0.01710 is compared with a background population rate of 0.00084, there is a statistically significant case excess of 0.01626 (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 (1111)OMGL classLMM class ExAC frequency
1. c.688G>A p.D230Nmissense 3Pathogenic (1)Pathogenic (2)0.000000
2. c.337C>G p.L113Vmissense 2Likely Pathogenic (1)Likely Pathogenic (1)0.000000
3. c.97G>A p.E33Kmissense 1VUS favour pathogenic (1)0.000000
4. c.91G>A p.A31Tmissense 1VUS (1)0.000000
5. c.712C>T p.R238Wmissense 1VUS favour pathogenic (1)0.000000
6. c.423G>C p.M141Imissense 1Likely Pathogenic (1)0.000000
7. c.695T>G p.L232Rmissense 1VUS (1)0.000000
8. c.632C>G p.A211Gmissense 1Likely Pathogenic (1)0.000000
9. c.341A>G p.E114Gmissense 1Likely Pathogenic (1)0.000000
10. c.359C>T p.A120Vmissense 1VUS (1)0.000000
11. c.23T>G p.M8Rmissense 1Likely Pathogenic (1)0.000000
12. c.734C>T p.S245Lmissense 1VUS (1)0.000000
13. c.725C>T p.A242Vmissense 1Likely Pathogenic (1)0.000000
14. c.416A>T p.E139Vmissense 1Likely Pathogenic (1)0.000000
15. c.368G>C p.S123Tmissense 1VUS (1)0.000000
16. c.275T>C p.I92Tmissense 1Likely Pathogenic (1)0.000000


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