Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO p.Leu412Phe (p.L412F)
(
ENST00000249373.8 )
SMO p.Leu412Phe (p.L412F) ( ENST00000249373.8 ) - Associated Disease
- basal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, mouse embryonic fibroblasts (MEFs), null for the Smo mouse gene expressing SMO L412F mutation, demonstrated resistance to vismodegib treatment (IC50: >320 nmol/L vs. 8.23 nmol/L) compared to MEFs expressing wild-type SMO. Resistance was determined by assessing GLI1 mRNA expression levels.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4653
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5365
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1570
- Evidence Type
- Predictive
- Disease
- Basal Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Vismodegib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25759020
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Resitance or Non-Reponse | true |