Variant · Snv
PYCR1 NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
CI-VAR-00006183Explore in graph →p.Arg266GlnNM_006907.4:c.797G>AClinVar 13190 rs121918374
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 13190 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Autosomal recessive cutis laxa type 2B; Inborn genetic diseases; Cutis laxa; Lung cancer; PYCR1-related disorder; Uterine corpus endometrial carcinoma | germline | 10 | Jan 12, 2026 | clinvar |