Variant Summary
- Also known as
- ARG1062TRP
- HGVS
- NM_000368.3:c.3184C>T,NP_000359.1:p.Arg1062Trp,ENST00000298552.3:c.3184C>T,NC_000009.11:g.135771933G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 1Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = TSC1 and variant = R1062W.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predisposing | Supports | Uncertain Significance | Tuberous Sclerosis | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Tuberous Sclerosis | 2 |