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
- An Arab basal cell carcinoma patient harboring SMO L412F mutation was associated with response to vismodegib monotherapy. Prior to the identification of the mutation, the patient was treated with acitretin, but did not achieve any response.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4654
- 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
- C
- Clinical Significance
- Resistance
- Pubmed
- 26822128
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Resitance or Non-Reponse | true |