UNC5C
Chr 4unc-5 netrin receptor C
Also known as: UNC5H3
This gene encodes a netrin receptor that mediates axon repulsion during neural development by binding netrin-1 and triggering growth cone repulsion in the developing nervous system. The gene is highly constrained against loss-of-function variants (pLI ~0.0009, LOEUF 0.49), suggesting intolerance to haploinsufficiency. Mutations in UNC5C cause autosomal dominant neurodevelopmental disorders affecting the central nervous system, though specific phenotypes and age of onset require further characterization.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
187 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 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 118 | 9 | 0 | 127 |
Likely Benign | 0 | 3 | 5 | 10 | 18 |
Benign | 0 | 6 | 0 | 7 | 13 |
| Total | 0 | 127 | 32 | 17 | 176 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UNC5C · 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