POLRMT
Chr 19ADARRNA polymerase mitochondrial
Also known as: APOLMT, COXPD55, MTRNAP, MTRPOL, h-mtRPOL
This gene encodes the mitochondrial DNA-directed RNA polymerase that catalyzes transcription of mitochondrial DNA into RNA and synthesizes RNA primers necessary for mitochondrial DNA replication. Mutations cause combined oxidative phosphorylation deficiency 55, which can be inherited in either autosomal dominant or autosomal recessive patterns. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), indicating that complete loss of function is likely incompatible with life.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
498 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 | 2 | 8 | 23 | 0 | 33 |
Likely Pathogenic | 1 | 1 | 6 | 0 | 8 |
VUS | 3 | 331 | 16 | 2 | 352 |
Likely Benign | 1 | 31 | 5 | 25 | 62 |
Benign | 0 | 5 | 3 | 2 | 10 |
Conflicting | — | 9 | |||
| Total | 7 | 376 | 53 | 29 | 474 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
POLRMT · 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