Variant · Snv
ABCA4 NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
CI-VAR-00005773Explore in graph →p.Val2050LeuNM_000350.3:c.6148G>CClinVar 7884 rs41292677
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 |
|---|---|---|---|---|---|---|---|---|
| 7884 | Likely benign | reviewed by expert panel | 3 | Severe early-childhood-onset retinal dystrophy; Cone dystrophy; ABCA4-related disorder; Retinitis pigmentosa; Retinal dystrophy; Stargardt disease; Retinitis pigmentosa 19; Age related macular degeneration 2; Cone-rod dystrophy 3; Sarcoma; Malignant tumor of esophagus; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Lung cancer; ABCA4-related retinopathy; Familial cancer of breast; Ovarian cancer; Retinal disorder | germline | 23 | Dec 16, 2025 | clinvar |