Is FOXC2 c.(?_1 pathogenic?

FOXC2 c.(?1 is classified Likely pathogenic in FOXC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-04-16). Associated with lymphedema-distichiasis syndrome.

What condition is associated with FOXC2 c.(?_1?

FOXC2 c.(?_1 is associated with lymphedema-distichiasis syndrome (ClinVar).

FOXC2 c.(?_1

VCV623171

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

lymphedema-distichiasis syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: FOXC2
Coding: c.(?_1
MANE Select: NM_005251
Type: Deletion
Location: chr16:None (GRCh38)
Gene constraint: LOEUF 1.807 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 56.45 · 8 PDB

Full FOXC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

lymphedema-distichiasis syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FOXC2 p.Tyr305fs Pathogenic ★★ same condition
FOXC2 p.Gln390_His396del Uncertain significance ★★ same condition
FOXC2 p.Ala325fs Pathogenic ★ same condition
FOXC2 p.Gln407fs Likely pathogenic ★ same condition
FOXC2 p.Pro403fs Likely pathogenic ★ same condition
FOXC2 p.Lys177del Uncertain significance ★ same condition
FOXC2 p.Gln444fs Pathogenic same condition
FOXC2 p.Gly97fs Pathogenic same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/foxc2-c-1 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown