RCBTB1
Chr 13ARRCC1 and BTB domain containing protein 1
Also known as: CLLD7, CLLL7, GLP, RDEOA
This protein contains an RCC1 domain and BTB domain and may be involved in cell cycle regulation through chromatin remodeling. Mutations cause autosomal recessive retinal dystrophy with or without extraocular anomalies. The gene shows minimal constraint against loss-of-function variants in population databases.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
500 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 | 9 | 1 | 41 | 0 | 51 |
Likely Pathogenic | 12 | 3 | 3 | 0 | 18 |
VUS | 2 | 176 | 28 | 3 | 209 |
Likely Benign | 2 | 3 | 62 | 88 | 155 |
Benign | 0 | 2 | 33 | 14 | 49 |
Conflicting | — | 2 | |||
| Total | 25 | 185 | 167 | 105 | 484 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RCBTB1 · 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