Variant · Snv
SMAD4 NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
CI-VAR-00006579Explore in graph →p.Arg361HisNM_005359.6:c.1082G>AClinVar 24832 rs377767347
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 24832 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Juvenile polyposis syndrome; Myhre syndrome; Carcinoma of pancreas; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome; Neoplasm; Colorectal cancer; SMAD4-related disorder | germline/somatic | 9 | Nov 03, 2025 | clinvar |