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.
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (427)▼ | OMGL class | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|---|
| 1. | c.545A>G | p.N182S | missense | 1 | Likely Benign (1) | 0.000049 | |
| 2. | c.98A>G | p.N33S | missense | 1 | VUS (1) | 0.000016 | |
| 3. | c.3040G>A | p.V1014I | missense | 1 | VUS (1) | 0.000049 |
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