DSG2 variants in DCM cohorts

The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering DSG2 variants identified in a cohort of 427 DCM patients (304 patients from OMGL, 123 patients from LMM). As the background population rate of rare protein-altering DSG2 variants (0.01298) is greater than this case frequency (0.00703), there is no excess of variants in this DCM patient cohort, suggesting that protein-altering DSG2 variants are not causative for DCM.

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 (427)OMGL classLMM class ExAC frequency
1. c.545A>G p.N182Smissense 1Likely Benign (1)0.000049
2. c.98A>G p.N33Smissense 1VUS (1)0.000016
3. c.3040G>A p.V1014Imissense 1VUS (1)0.000049


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