TNNC1 variants in DCM cohorts

The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering TNNC1 variants identified in a cohort of 156 DCM patients. When this rare variant frequency of 0.01923 is compared with a background population rate of 0.00060, there is a statistically significant case excess of 0.01863 (p=0.0001), which suggests that approximately 3 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.445G>A p.D149Nmissense 1VUS (1)0.000000
2. c.442A>G p.I148Vmissense 1VUS (1)0.000008
3. c.394G>A p.D132Nmissense 1VUS (1)0.000000


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