Variant · Snv
VHL S183L (c.548C>T)
CI-VAR-00004009Explore in graph →NP_000542.1:p.Ser183LeuNM_000551.3:c.548C>TClinVar 411985 CIViC 2161 rs5030823
Curated evidence
Evidence by cancer (3 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 24466223
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL S183L (c.548C>T) | (predisposing) | Predisposing | C | Supports Predisposition | 2 | submitted | EID5797This paper analyzed a total of 101 tumours from 89 patients with pheochromocytoma or paraganglioma for both somatic and germline mutations. The above mutation was found in 1 patient (#36) with a thora… (full text at CIViC) PMID 24466223 · Crona et al., 2014 · Open in CIViC | civic |
| VHL S183L (c.548C>T) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10733This report studied the prevalence of germline variants in Japanese PPGL patients. Of the 370 PPGL original Japanese probands, this cohort consisted of 15 patients with pheochromocytoma and/or paragan… (full text at CIViC) PMID 34439168 · Yonamine et al., 2021 · Open in CIViC | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 411985 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma | germline | 9 | Aug 20, 2025 | clinvar |