Variant · Snv
VPS35L NM_020314.7(VPS35L):c.1554G>A (p.Thr518=)
CI-VAR-00308184Explore in graph →p.Thr518=NM_020314.7:c.1554G>AClinVar 2672622 rs144908771
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
- 2026-09-14
- 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 |
|---|---|---|---|---|---|---|---|---|
| 2672622 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Ritscher-Schinzel syndrome; VPS35L-related disorder; Clear cell carcinoma of kidney; Sarcoma; Acute myeloid leukemia; Lung cancer; Colon adenocarcinoma; Gastric cancer; Familial cancer of breast; Cholangiocarcinoma; Malignant tumor of urinary bladder; Cervical cancer; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1 | germline | 4 | Dec 01, 2025 | clinvar |