TCAP variants in DCM cohorts

The table below lists the 7 rare (MAF<0.0001 in ExAC) protein-altering TCAP variants identified in a cohort of 590 DCM patients. When this rare variant frequency of 0.01186 is compared with a background population rate of 0.00242, there is a statistically significant case excess of 0.00944 (p=0.0008), which suggests that approximately 6 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 (590)LMM class ExAC frequency
1. c.472C>A p.R158Smissense 2VUS (2)0.000000
2. c.37_39delGAG inframe 2VUS (2)0.000000
3. c.388C>T p.R130Cmissense 1VUS (1)0.000058
4. c.269C>T p.P90Lmissense 1VUS (1)0.000000
5. c.493C>G p.Q165Emissense 1VUS (1)0.000000


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