DES non-truncating variants in DCM cohorts

The table below lists the 6 rare (MAF<0.0001 in ExAC) non-truncating DES variants identified in a cohort of 894 DCM patients (304 patients from OMGL, 590 patients from LMM). When this rare variant frequency of 0.00671 is compared with a background population rate of 0.00436, there is a case excess of 0.00235, although this is not statistically significant for non-truncating DES variants in DCM (p=0.2998).

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 (894)OMGL classLMM class ExAC frequency
1. c.832C>T p.R278Wmissense 1VUS (1)0.000000
2. c.193G>A p.G65Smissense 1VUS (1)0.000056
3. c.127A>G p.K43Emissense 1VUS (1)0.000000
4. c.735+3A>G p.Asp214_Glu245delinframe 1Pathogenic (1)0.000000
5. c.1019G>A p.G340Dmissense 1VUS (1)0.000000
6. c.449G>C p.R150Pmissense 1VUS (1)0.000000
7. c.38C>T p.S13Fmissense 1Pathogenic (1)0.000000


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