MRM1

Chr 17

mitochondrial rRNA methyltransferase 1

NCBI Gene: 79922ENSG00000278619UniProt: Q6IN84

Enables rRNA (guanosine-2'-O-)-methyltransferase activity. Involved in rRNA processing. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

195
ClinVar variants
133
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MRM1
📋
ClinVar Variants
133 Pathogenic / Likely Pathogenic· 59 VUS of 195 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

195 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic118
Likely Pathogenic15
VUS59
Likely Benign1
Benign2
118
Pathogenic
15
Likely Pathogenic
59
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
118
0
118
Likely Pathogenic
0
0
15
0
15
VUS
0
53
6
0
59
Likely Benign
0
1
0
0
1
Benign
0
2
0
0
2
Total0561390195

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MRM1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools