TNNI3 non-truncating variants in DCM cohorts

The table below lists the 8 rare (MAF<0.0001 in ExAC) non-truncating TNNI3 variants identified in a cohort of 1239 DCM patients (483 patients from OMGL, 756 patients from LMM). When this rare variant frequency of 0.00646 is compared with a background population rate of 0.00186, there is a case excess of 0.00460, although this is not statistically significant for non-truncating TNNI3 variants in DCM (p=0.0033).

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 (1239)OMGL classLMM class ExAC frequency
1. c.356C>A p.T119Nmissense 2VUS (2)0.000033
2. c.550G>A p.E184Kmissense 1Likely Pathogenic (1)0.000000
3. c.470C>T p.A157Vmissense 1Likely Pathogenic (1)0.000000
4. c.65G>A p.R22Hmissense 1VUS (1)0.000000
5. c.544G>A p.E182Kmissense 1Likely Pathogenic (1)0.000000
6. c.557G>A p.R186Qmissense 1Pathogenic (1)0.000000
7. c.488C>T p.A163Vmissense 1VUS (1)0.000000


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