EVC2
Chr 4ARADEvC ciliary complex subunit 2
Also known as: LBN, WAD
The protein is a component of the EvC complex that positively regulates ciliary Hedgehog signaling and plays a critical role in bone formation and skeletal development. Mutations cause Ellis-van Creveld syndrome (chondroectodermal dysplasia), an autosomal recessive skeletal dysplasia, and Weyers acrofacial dysostosis, which combines limb and facial abnormalities and follows autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive disease mechanism for the more severe phenotype.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 3 | 0 | 4 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 1 | 69 | 3 | 2 | 75 |
Likely Benign | 0 | 1 | 9 | 8 | 18 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 3 | 70 | 17 | 10 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EVC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools