SMARCB1 Deletion

CI-VAR-00000634Explore in graph →CIViC 696

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 4 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
Atypical Teratoid/Rhabdoid Tumor1
SMARCB1 Deletion AND SMARCB1 Single nucleotide variant	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID11177 325 ATRTs underwent methylation profiling, revealing three methylation distinct clusters - ATRT-TYR, ATRT-SHH and ATRT-MYC. In the ATRT-TYR subgroup, the characteristic pattern of SMARCB1 loss was of … (full text at CIViC) PMID 31889194 · Ho et al., 2020 · Open in CIViC	civic
Epithelioid Sarcoma1
SMARCB1 Deletion	Tazemetostat	Predictive	A	Supports Sensitivity Response	4	submitted	EID9992 In this phase II, multicenter study of tazemetostat (EZH2 inhibitor) in adults with INI1-negative tumors or relapsed/refractory synovial sarcoma, subjects were enrolled into one of 7 cohorts. Cohort #… (full text at CIViC)

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.

Poorly Differentiated Chordoma1
SMARCB1 Deletion	(diagnostic)	Diagnostic	B	Supports Positive	2	rejected	EID11179 Copy number profiling revealed loss of chromosome 22q including the SMARCB1 locus as the only recurrent alteration in 7 of 7 poorly differentiated chordomas. FISH or MLPA was used to confirm heterozy… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic

Rhabdoid Tumor2
SMARCB1 Deletion	Panobinostat	Predictive	D	Supports Sensitivity Response	3	submitted	EID1964 Sustained low-dose panobinostat (LBH589) treatment of rhabdoid tumor cells led to changes in cellular morphology associated with a marked increase in the induction of differentiation pathways. In mous… (full text at CIViC) PMID 26920892 · Muscat et al., 2016 · Open in CIViC	civic
SMARCB1 Deletion	Tazemetostat	Predictive	D	Supports Sensitivity Response	3	accepted	EID1740 EPZ-6438 (Tazemetostat) induces apoptosis and differentiation specifically in SMARCB1-deleted malignant rhabdoid tumors (MRT) cells. This study compared in vitro EPZ-6438 treatment of four SMARCB1-del… (full text at CIViC) PMID 23620515 · Knutson et al., 2013 · Open in CIViC	civic