Variant · Snv
LAMA3 NM_000227.6(LAMA3):c.130A>G (p.Ser44Gly)
CI-VAR-00273719Explore in graph →p.Ser44GlyNM_000227.6:c.130A>GClinVar 2174128 rs757749910
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 2174128 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Gastric cancer; Inborn genetic diseases; Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2B, severe; Familial cancer of breast | germline | 4 | Mar 08, 2025 | clinvar |