The table below lists the 13 rare (MAF<0.0001 in ExAC) protein-altering ACTC1 variants identified in a cohort of 2650 HCM patients. When this rare variant frequency of 0.00491 is compared with a background population rate of 0.00064, there is a statistically significant case excess of 0.00427 (p<0.0001), which suggests that approximately 11 of these variants may be pathogenic.
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (2650)▼ | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.301G>A | p.E101K | missense | 4 | Pathogenic | 0.000008 |
| 2. | c.28C>A | p.L10M | missense | 2 | VUS | 0.000025 |
| 3. | c.793C>G | p.Q265E | missense | 2 | Likely Pathogenic | 0.000000 |
| 4. | c.83C>T | p.A28V | missense | 1 | VUS | 0.000000 |
| 5. | c.229A>G | p.I77V | missense | 1 | VUS | 0.000024 |
| 6. | c.268C>T | p.H90Y | missense | 1 | VUS | 0.000008 |
| 7. | c.850A>T | p.I284F | missense | 1 | VUS | 0.000000 |
| 8. | c.76G>A | p.D26N | missense | 1 | VUS favour pathogenic | 0.000000 |
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