Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO p.Asp473His (p.D473H)
(
ENST00000249373.8 )
SMO p.Asp473His (p.D473H) ( ENST00000249373.8 ) - Associated Disease
- Brain Medulloblastoma
- Source Database
- CIViC Evidence
- Description
- Saridegib treatment induced tumor reduction and significantly prolonged survival in a Shh-driven mouse medulloblastoma model, and was found to be active in cells with the D473H point mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1099
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5365
- Variant URL
- https://civic.genome.wustl.edu/links/variants/299
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Brain Medulloblastoma
- Evidence Direction
- Supports
- Drug
- Patidegib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22550175
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Patidegib | Sensitivity | true |