ACTC1 variants in HCM cohorts

The table below lists the 22 rare (MAF<0.0001 in ExAC) protein-altering ACTC1 variants identified in a cohort of 4185 HCM patients (1535 patients from OMGL, 2650 patients from LMM). When this rare variant frequency of 0.00526 is compared with a background population rate of 0.00064, there is a statistically significant case excess of 0.00462 (p<0.0001), which suggests that approximately 19 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 (4185)OMGL classLMM class ExAC frequency
1. c.301G>A p.E101Kmissense 5Pathogenic (1)Pathogenic (4)0.000008
2. c.793C>G p.Q265Emissense 2Likely Pathogenic (2)0.000000
3. c.850A>T p.I284Fmissense 2VUS (1)VUS (1)0.000000
4. c.76G>A p.D26Nmissense 2VUS (1)VUS favour pathogenic (1)0.000000
5. c.28C>A p.L10Mmissense 2VUS (2)0.000025
6. c.1069A>G p.M357Vmissense 1VUS (1)0.000000
7. c.83C>T p.A28Vmissense 1VUS (1)0.000000
8. c.124C>T p.H42Ymissense 1VUS (1)0.000000
9. c.229A>G p.I77Vmissense 1VUS (1)0.000024
10. c.797C>T p.P266Lmissense 1VUS (1)0.000000
11. c.268C>T p.H90Ymissense 1VUS (1)0.000008
12. c.1099G>A p.A367Tmissense 1VUS (1)0.000000
13. c.110T>C p.V37Amissense 1VUS (1)0.000000
14. c.752C>G p.T251Smissense 1VUS (1)0.000000


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