POLR3D
Chr 8RNA polymerase III subunit D
Also known as: BN51T, C53, RPC4, RPC53, TSBN51
The protein serves as a specific peripheral component of RNA polymerase III, which transcribes small non-coding RNAs including tRNAs, 5S rRNA, and microRNAs, and also functions as a DNA sensor in innate immune responses. Mutations cause autosomal recessive hypomyelinating leukodystrophy, typically presenting in early childhood with progressive motor deterioration, developmental delay, and cerebellar ataxia. The gene shows extremely high constraint against loss-of-function variants, indicating that such mutations are likely pathogenic when found in patients with compatible clinical presentations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
175 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 | 78 | 0 | 78 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 70 | 9 | 0 | 79 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 71 | 91 | 0 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
POLR3D · 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