Variant Summary
- Also known as
- C.509T>A,VAL170ASP
- HGVS
- ENST00000256474.2:c.509T>A,NC_000003.11:g.10191516T>A,NM_000551.3:c.509T>A,NP_000542.1:p.Val170Asp
- 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 = V170D (c.509T>A).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Von Hippel-Lindau Disease | 3 |