ACTN2 variants in DCM cohorts

The table below lists the 8 rare (MAF<0.0001 in ExAC) protein-altering ACTN2 variants identified in a cohort of 895 DCM patients (305 patients from OMGL, 590 patients from LMM). As the background population rate of rare protein-altering ACTN2 variants (0.01086) is greater than this case frequency (0.00894), there is no excess of variants in this DCM patient cohort, suggesting that protein-altering ACTN2 variants are not causative for DCM.

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 (895)OMGL classLMM class ExAC frequency
1. c.736A>G p.M246Vmissense 1VUS (1)0.000000
2. c.1384G>T p.A462Smissense 1VUS favour pathogenic (1)0.000016
3. c.2003C>G p.T668Rmissense 1VUS (1)0.000049
4. c.2289C>G p.N763Kmissense 1VUS (1)0.000000
5. c.556C>T p.L186Fmissense 1VUS (1)0.000082
6. c.1714C>T p.R572Wmissense 1VUS (1)0.000049
7. c.343G>A p.V115Mmissense 1VUS favour pathogenic (1)0.000000
8. c.130T>C p.F44Lmissense 1VUS (1)0.000000


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