Variant · Snv
PTCH1 NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)
CI-VAR-00147112Explore in graph →p.Lys348ArgNM_000264.5:c.1043A>GClinVar 851614 rs1476325987
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 |
|---|---|---|---|---|---|---|---|---|
| 851614 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma, susceptibility to, 1; PTCH1-related disorder | germline | 5 | Feb 22, 2025 | clinvar |