The table below lists the 20 rare (MAF<0.0001 in ExAC) protein-altering MYBPC3 variants identified in a cohort of 756 DCM patients. When this rare variant frequency of 0.02646 is compared with a background population rate of 0.01970, there is a case excess of 0.00676, although this is not statistically significant for protein-altering MYBPC3 variants in DCM (p=0.2002).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (756)▼ | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.994G>A | p.E332K | missense | 2 | VUS | 0.000009 |
| 2. | c.529C>T | p.R177C | missense | 2 | VUS | 0.000062 |
| 3. | c.1246G>A | p.G416S | missense | 1 | Likely Benign | 0.000028 |
| 4. | c.166G>A | p.G56S | missense | 1 | VUS | 0.000015 |
| 5. | c.3677G>T | p.R1226L | missense | 1 | VUS | 0.000000 |
| 6. | c.239delCinsGAGG | inframe | 1 | VUS favour pathogenic | 0.000000 | |
| 7. | c.3005G>A | p.R1002Q | missense | 1 | VUS | 0.000046 |
| 8. | c.745T>C | p.C249R | missense | 1 | VUS | 0.000010 |
| 9. | c.1373G>A | p.R458H | missense | 1 | VUS | 0.000044 |
| 10. | c.1422G>C | p.E474D | missense | 1 | VUS | 0.000000 |
| 11. | c.121C>T | p.R41C | missense | 1 | VUS | 0.000034 |
| 12. | c.148A>G | p.S50G | missense | 1 | VUS | 0.000038 |
| 13. | c.2641G>A | p.V881I | missense | 1 | VUS | 0.000018 |
| 14. | c.917G>A | p.R306Q | missense | 1 | VUS | 0.000036 |
| 15. | c.1976T>C | p.I659T | missense | 1 | VUS favour pathogenic | 0.000000 |
| 16. | c.206G>A | p.R69Q | missense | 1 | Likely Benign | 0.000024 |
| 17. | c.2909G>A | p.R970Q | missense | 1 | VUS | 0.000032 |
| 18. | c.713G>A | p.R238H | missense | 1 | VUS | 0.000074 |
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