Variant · Snv
SPTA1 NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
CI-VAR-00046953Explore in graph →p.Leu1858ValNM_003126.4:c.5572C>GClinVar 258948 rs3737515
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 |
|---|---|---|---|---|---|---|---|---|
| 258948 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3; Hemolytic anemia; Intellectual developmental disorder, X-linked 111; Malignant lymphoma, large B-cell, diffuse; Hereditary spherocytosis type 1 | germline | 17 | Jun 01, 2026 | clinvar |