CLRN1
Chr 3ARclarin 1
Also known as: RP61, USH3, USH3A
This gene encodes a transmembrane protein with an endoplasmic reticulum retention signal that functions at excitatory ribbon synapses between hair cells and cochlear ganglion cells, and likely at analogous retinal synapses. Mutations cause Usher syndrome type IIIa, which affects both hearing and vision with progressive hearing loss typically beginning in childhood or adolescence. The gene shows autosomal recessive inheritance and is highly intolerant to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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 | 11 | 2 | 5 | 0 | 18 |
Likely Pathogenic | 23 | 7 | 2 | 0 | 32 |
VUS | 3 | 59 | 21 | 0 | 83 |
Likely Benign | 2 | 8 | 19 | 26 | 55 |
Benign | 0 | 0 | 7 | 0 | 7 |
Conflicting | — | 5 | |||
| Total | 39 | 76 | 54 | 26 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CLRN1 · 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