Variant · Snv
DCLRE1C NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln)
CI-VAR-00075656Explore in graph →p.Arg179GlnNM_001033855.3:c.536G>AClinVar 468486 rs150854849
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 468486 | Uncertain significance | criteria provided, single submitter | 1 | Severe combined immunodeficiency due to DCLRE1C deficiency; Athabaskan severe combined immunodeficiency; Squamous cell carcinoma of the head and neck | germline | 3 | Dec 09, 2024 | clinvar |