SMO W535L

CI-VAR-00004696Explore in graph →NP_005622.1:p.Trp535LeuNM_005631.4:c.1604G>TClinVar 8117 CIViC 837 rs121918347

Curated evidence

Evidence by cancer (6 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 1–6 of 6 evidence items across 3 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 Carcinoma4
SMO W535L	(diagnostic)	Diagnostic	C	Supports N/A	2	submitted	EID1929 Reifenberger et al used SSCP/Heteroduplex analysis and direct sequencing to identify mutations in PTCH or SMO in 31 sporadic basal cell carcinomas (BCCs) and 15 primitive neuroectodermal tumors (PNETs… (full text at CIViC) PMID 9581815 · Reifenberger et al., 1998 · Open in CIViC	civic
SMO W535L	(diagnostic)	Diagnostic	D	Supports N/A	3	submitted	EID1926 Xie et al identified 3 / 47 sporadic basal cell carcinomas (BCC) with somatic mutations in SMO, 2 of which were W535L. Whole blood from these patients, as a normal control, did not contain this mutati… (full text at CIViC) PMID 9422511 · Xie et al., 1998 · Open in CIViC	civic
SMO W535L

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
8117	Pathogenic	no assertion criteria provided	0	Basal cell carcinoma, somatic	somatic	1	Jan 01, 1998	clinvar

Meningioma1
SMO W535L	(diagnostic)	Diagnostic	D	Supports N/A	3	submitted	EID1927 Brastianos et al identified SMO W535L in 2 tumors from a set of 65 meningiomas, notably in meningiomas lacking NF2 alterations and of the meningiothelial subtype. The variants displayed high somatic v… (full text at CIViC) PMID 23334667 · Brastianos et al., 2013 · Open in CIViC	civic

Olfactory Groove Meningioma1
SMO W535L	(diagnostic)	Diagnostic	C	Supports N/A	2	submitted	EID1928 Boetto et al used Sanger sequencing to query SMO mutations (W535L and L412F) in 79 confirmed olfactory groove meningiomas and identified 1 patient with W535L (and 21 with L412F). PMID 28082415 · Boetto et al., 2017 · Open in CIViC	civic