Variant Summary
- Also known as
- C.506T>C,LEU169PRO,RS1131690962
- HGVS
- NM_000551.3:c.506T>C,NP_000542.1:p.Leu169Pro,NC_000003.11:g.10191513T>C,ENST00000256474.2:c.506T>C
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L169P (c.506T>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 | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |