Variant · Snv
COL6A3 NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
CI-VAR-00047079Explore in graph →p.Ala163=NM_004369.4:c.489G>AClinVar 259302 rs148970984
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 |
|---|---|---|---|---|---|---|---|---|
| 259302 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Collagen 6-related myopathy; Bethlem myopathy 1A; Ovarian serous cystadenocarcinoma; Cervical cancer; Clear cell carcinoma of kidney; Malignant tumor of urinary bladder; Uterine corpus endometrial carcinoma | germline | 11 | Jan 27, 2026 | clinvar |