SMARCB1 NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

CI-VAR-00055433Explore in graph →p.Arg374GlnNM_003073.5:c.1121G>AClinVar 372511 rs1057517825

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
372511	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	SMARCB1-related BAFopathy; Intellectual disability, autosomal dominant 15; Hereditary cancer-predisposing syndrome; Coffin-Siris syndrome; Meningioma; Colon adenocarcinoma; Uterine corpus endometrial carcinoma; Neoplasm; Embryonal rhabdomyosarcoma	germline/somatic	12	Feb 11, 2026	clinvar