Variant · Snv
PNPLA6 NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser)
CI-VAR-00218312Explore in graph →p.Gly347SerNM_001166114.2:c.1039G>AClinVar 1511598 rs760573469
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 |
|---|---|---|---|---|---|---|---|---|
| 1511598 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary spastic paraplegia 39; Inborn genetic diseases; Hepatocellular carcinoma; Gastric cancer | germline | 3 | Jul 31, 2025 | clinvar |