The table below lists the 14 rare (MAF<0.0001 in ExAC) non-truncating DSP variants identified in a cohort of 304 DCM patients. When this rare variant frequency of 0.04605 is compared with a background population rate of 0.03078, there is a case excess of 0.01527, although this is not statistically significant for non-truncating DSP variants in DCM (p=0.0660).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (304)▼ | OMGL class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.353T>A | p.M118K | missense | 1 | VUS | 0.000000 |
| 2. | c.3751G>A | p.D1251N | missense | 1 | VUS | 0.000000 |
| 3. | c.7847C>T | p.S2616L | missense | 1 | VUS | 0.000008 |
| 4. | c.521G>T | p.C174F | missense | 1 | VUS | 0.000057 |
| 5. | c.1381A>G | p.I461V | missense | 1 | VUS | 0.000000 |
| 6. | c.4670C>T | p.T1557M | missense | 1 | VUS | 0.000008 |
| 7. | c.859A>G | p.N287D | missense | 1 | VUS | 0.000000 |
| 8. | c.4221A>C | p.E1407D | missense | 1 | VUS | 0.000000 |
| 9. | c.131G>A | p.R44Q | missense | 1 | VUS | 0.000000 |
| 10. | c.860A>G | p.N287S | missense | 1 | VUS | 0.000008 |
| 11. | c.1764_1766dup | p.Glu589dup | inframe | 1 | Likely Pathogenic | 0.000000 |
| 12. | c.868G>A | p.E290K | missense | 1 | VUS | 0.000000 |
| 13. | c.4022G>A | p.R1341H | missense | 1 | VUS | 0.000074 |
| 14. | c.6788T>C | p.I2263T | missense | 1 | VUS | 0.000000 |
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