TPM1 variants in HCM cohorts

The table below lists the 22 rare (MAF<0.0001 in ExAC) protein-altering TPM1 variants identified in a cohort of 1535 HCM patients. When this rare variant frequency of 0.01433 is compared with a background population rate of 0.00086, there is a statistically significant case excess of 0.01347 (p<0.0001), which suggests that approximately 21 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 (1535)OMGL class ExAC frequency
1. c.523G>A p.D175Nmissense 4Pathogenic0.000000
2. c.746T>G p.L249Wmissense 2Likely Pathogenic0.000000
3. c.548C>T p.A183Vmissense 2VUS0.000000
4. c.797A>G p.K266Rmissense 2VUS0.000042
5. c.481A>G p.K161Emissense 1VUS0.000000
6. c.774C>G p.D258Emissense 1VUS0.000000
7. c.850A>G p.I284Vmissense 1VUS0.000000
8. c.715G>A p.A239Tmissense 1VUS0.000000
9. c.677A>G p.K226Rmissense 1VUS0.000000
10. c.302G>C p.R101Pmissense 1VUS0.000000
11. c.82G>C p.D28Hmissense 1VUS0.000000
12. c.475G>A p.D159Nmissense 1VUS0.000000
13. c.761A>G p.D254Gmissense 1VUS0.000000
14. c.644C>T p.S215Lmissense 1VUS0.000008
15. c.699G>C p.K233Nmissense 1VUS0.000000
16. c.461T>C p.I154Tmissense 1Pathogenic0.000000


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