SMO L412F

CI-VAR-00002347Explore in graph →NP_005622.1:p.Leu412PheNM_005631.4:c.1234C>TClinVar 245609 CIViC 1570 rs879255280

Curated evidence

Evidence by cancer (3 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 1–3 of 3 evidence items across 1 cancer context 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 Carcinoma3
SMO L412F	Vismodegib	Predictive	C	Supports Resistance	—	accepted	EID4654 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 acit… (full text at CIViC) PMID 26822128 · Khamaysi et al., 2016 · Open in CIViC	civic
SMO L412F	Vismodegib	Predictive	D	Supports Resistance	—	submitted	EID4652 In an in vitro study, a C3H10T1/2 cell line expressing a SMO L412F mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC) PMID 25759019 · Sharpe et al., 2015 · Open in CIViC	civic

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
245609	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Curry-Jones syndrome; Medulloblastoma WNT activated; Meningioma; SMO-related disorder	germline/somatic	5	Nov 25, 2021	clinvar