DES non-truncating variants in DCM cohorts

The table below lists the 3 rare (MAF<0.0001 in ExAC) non-truncating DES variants identified in a cohort of 590 DCM patients. When this rare variant frequency of 0.00508 is compared with a background population rate of 0.00436, there is a case excess of 0.00072, 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 (590)LMM class ExAC frequency
1. c.193G>A p.G65Smissense 1VUS0.000056
2. c.127A>G p.K43Emissense 1VUS0.000000
3. c.735+3A>G p.Asp214_Glu245delinframe 1Pathogenic0.000000
4. c.38C>T p.S13Fmissense 1Pathogenic0.000000


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