SNAI1
Chr 20snail family transcriptional repressor 1
Also known as: SLUGH2, SNA, SNAH, SNAIL, SNAIL1, dJ710H13.1
The protein encoded by this gene is a zinc finger transcriptional repressor that induces epithelial-to-mesenchymal transition and is critical for mesoderm formation during embryonic development by repressing genes like E-cadherin through recruitment of histone demethylases. Mutations cause Waardenburg syndrome type 3, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities including heterochromia and white forelock, and upper limb defects. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.68), and the condition typically presents in early childhood with the characteristic pigmentary and hearing features.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
38 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 | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 21 | 2 | 0 | 23 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 22 | 11 | 0 | 33 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNAI1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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