RNF207
Chr 1ring finger protein 207
Also known as: C1orf188
The protein enables Hsp70 binding and may stabilize membrane expression of the KCNH2 potassium channel involved in cardiac repolarization. Mutations cause long QT syndrome, a cardiac arrhythmia disorder that can lead to sudden death. The gene shows extremely low constraint against loss-of-function variants (pLI ~0), suggesting it tolerates such mutations well.
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 (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
219 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 | 53 | 0 | 53 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 1 | 119 | 3 | 0 | 123 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 2 | 128 | 59 | 1 | 190 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNF207 · 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