The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering TMEM43 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 TMEM43 variants (0.00730) is greater than this case frequency (0.00703), there is no excess of variants in this DCM patient cohort, suggesting that protein-altering TMEM43 variants are not causative for DCM.
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (427)▼ | OMGL class | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|---|
| 1. | c.214G>A | p.V72M | missense | 1 | VUS (1) | 0.000008 | |
| 2. | c.520G>A | p.A174T | missense | 1 | VUS (1) | 0.000000 | |
| 3. | c.625T>G | p.S209A | missense | 1 | VUS (1) | 0.000000 |
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