TNNI3 truncating variants in HCM cohorts

The table below lists the 6 rare (MAF<0.0001 in ExAC) truncating TNNI3 variants identified in a cohort of 6047 HCM patients (3135 patients from OMGL, 2912 patients from LMM). When this rare variant frequency of 0.00099 is compared with a background population rate of 0.00042, there is a case excess of 0.00057, although this is not statistically significant for truncating TNNI3 variants in HCM (p=0.0571).

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 (6047)OMGL classLMM class ExAC frequency
1. c.538del p.Asp180Thrfs*19frameshift 2Pathogenic (2)0.000000
2. c.573G>A p.W191Xnonsense 1VUS (1)0.000000
3. c.338del p.Asp113Alafs*2frameshift 1Pathogenic (1)0.000000
4. c.292C>T p.R98Xnonsense 1VUS (1)0.000091
5. c.506del p.Leu169Argfs*8frameshift 1VUS (1)0.000000


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