MYBPC3 variants in DCM cohorts

The table below lists the 9 rare (MAF<0.0001 in ExAC) protein-altering MYBPC3 variants identified in a cohort of 405 DCM patients. When this rare variant frequency of 0.02222 is compared with a background population rate of 0.01970, there is a case excess of 0.00252, although this is not statistically significant for protein-altering MYBPC3 variants in DCM (p=0.2002).

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 (405)OMGL class ExAC frequency
1. c.1123G>A p.V375Mmissense 1VUS0.000009
2. c.2429G>A p.R810Hmissense 1VUS0.000033
3. c.1724G>T p.G575Vmissense 1VUS0.000000
4. c.3154A>G p.M1052Vmissense 1VUS0.000033
5. c.818G>A p.R273Hmissense 1VUS0.000042
6. c.2300A>G p.K767Rmissense 1VUS0.000016
7. c.596T>G p.L199Rmissense 1VUS0.000000
8. c.2671C>T p.R891Wmissense 1VUS0.000031
9. c.148A>G p.S50Gmissense 1VUS0.000038


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