Variant · Snv
HLCS NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
CI-VAR-00270955Explore in graph →p.Val480LeuNM_001352514.2:c.1438G>TClinVar 2137937 rs780790877
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 |
|---|---|---|---|---|---|---|---|---|
| 2137937 | Uncertain significance | criteria provided, single submitter | 1 | Holocarboxylase synthetase deficiency; Clear cell carcinoma of kidney | germline | 2 | Feb 24, 2025 | clinvar |