Variant · Snv
ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
CI-VAR-00005772Explore in graph →p.Gly863AlaNM_000350.3:c.2588G>CClinVar 7879 rs76157638
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 |
|---|---|---|---|---|---|---|---|---|
| 7879 | Uncertain significance | reviewed by expert panel | 3 | Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Peripheral neuropathy; Abnormal macular morphology; Inborn genetic diseases; Retinal dystrophy; Stargardt disease; Retinitis pigmentosa; Cone-rod dystrophy; Age related macular degeneration 2; Age-related macular degeneration; Retinitis pigmentosa 19; Stargardt disease 3; ABCA4-related disorder; Clear cell carcinoma of kidney; Sarcoma; Hepatocellular carcinoma; Familial cancer of breast; Uterine corpus endometrial carcinoma; Retinal disorder; ABCA4-related retinopathy; autosomal recessive ABCA4-related retinopathy | germline | 43 | Jan 27, 2026 | clinvar |