Variant · Snv
FLNA NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
CI-VAR-00005980Explore in graph →p.Pro207LeuNM_001110556.2:c.620C>TClinVar 11755 rs28935469
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 |
|---|---|---|---|---|---|---|---|---|
| 11755 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Oto-palato-digital syndrome, type I; Short stature; Conductive hearing impairment; Cleft palate; Familial thoracic aortic aneurysm and aortic dissection; Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, periventricular, X-linked dominant; Frontometaphyseal dysplasia; FLNA-related disorder; Gastric cancer; Thyroid cancer, nonmedullary, 1 | germline | 11 | May 11, 2025 | clinvar |