Variant Summary
- HGVS
- NC_000003.11:g.10188249A>C,CM000665.1:g.10188249A>C,NP_000542.1:p.Asn131Thr,NM_000551.3:c.392A>C
- Variant Type(s)
- non_conservative_missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = N131T (c.392A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |