SMO D473H

CI-VAR-00000495Explore in graph →NP_005622.1:p.Asp473HisNM_005631.4:c.1417G>AClinVar 375938 CIViC 299

Curated evidence

Evidence by cancer (4 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–4 of 4 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Basal Cell Carcinoma1
SMO D473H	Vismodegib	Predictive	D	Supports Resistance	3	accepted	EID755 D473 mutations were identified in 5/30 resistant basal cell carcinomas. Crystal structure indicated this mutation interacts with a water molecule in the ligand binding pocket, putatively altering its … (full text at CIViC) PMID 25759020 · Atwood et al., 2015 · Open in CIViC	civic
Medulloblastoma3
SMO D473H	Patidegib	Predictive	D	Supports Sensitivity Response	3	accepted	EID1099 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. PMID 22550175 · Lee et al., 2012 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.