RBM20 variants in DCM cohorts

The table below lists the 9 rare (MAF<0.0001 in ExAC) protein-altering RBM20 variants identified in a cohort of 156 DCM patients. When this rare variant frequency of 0.05769 is compared with a background population rate of 0.01414, there is a statistically significant case excess of 0.04355 (p=0.0005), which suggests that approximately 7 of these variants may be pathogenic.

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (156)LMM class ExAC frequency
1. c.2108G>A p.R703Kmissense 1VUS favour pathogenic (1)0.000000
2. c.3022C>T p.R1008Wmissense 1VUS (1)0.000045
3. c.1633G>A p.V545Imissense 1Likely Benign (1)0.000045
4. c.2728A>C p.T910Pmissense 1VUS (1)0.000000
5. c.1907G>A p.R636Hmissense 1VUS favour pathogenic (1)0.000000
6. c.2737G>A p.E913Kmissense 1VUS (1)0.000000
7. c.2017C>T p.R673Wmissense 1VUS favour pathogenic (1)0.000053
8. c.1459G>A p.V487Mmissense 1VUS (1)0.000050
9. c.1913C>T p.P638Lmissense 1Pathogenic (1)0.000000


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