Variant Summary
- Also known as
- C.473T>C,LEU158PRO,RS121913346
- HGVS
- NM_000551.3:c.473T>C,NP_000542.1:p.Leu158Pro,NC_000003.11:g.10191480T>C,ENST00000256474.2:c.473T>C
- Variant Type(s)
- missense_variant
- Evidence Items
- 5
Evidence Level Distribution
Level C: 5
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L158P (c.473T>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |