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
- In this case report, the D473H mutation was reported as an acquired mechanism of resistance to the hedgehog pathway inhibitor GDC-0449 (vismodegib).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/745
- 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
- Vismodegib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 19726788
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Resitance or Non-Reponse | true |