EPS8
Chr 12AREGFR pathway substrate 8, signaling adaptor
Also known as: DFNB102
The EPS8 protein regulates actin cytoskeleton dynamics and architecture, controlling cellular protrusions and serving as a signaling adapter in processes including axonal filopodia formation and stereocilia elongation in hair cells. Mutations cause autosomal recessive deafness (DFNB102), affecting the auditory system. This gene is highly constrained against loss-of-function mutations (pLI = 0.97), indicating that biallelic variants are likely required for disease manifestation.
Primary Disease Associations & Inheritance
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
200 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 | 2 | 0 | 7 | 0 | 9 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 0 | 101 | 3 | 1 | 105 |
Likely Benign | 0 | 3 | 20 | 25 | 48 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 3 | 104 | 32 | 26 | 166 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EPS8 · 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