Variant · Snv
PLEC NM_201384.3(PLEC):c.3786C>T (p.Gly1262=)
CI-VAR-00109718Explore in graph →p.Gly1262=NM_201384.3:c.3786C>TClinVar 593484 rs547206059
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 |
|---|---|---|---|---|---|---|---|---|
| 593484 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with nail dystrophy; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex 5C, with pyloric atresia; Clear cell carcinoma of kidney | germline | 3 | Aug 09, 2022 | clinvar |