MT-RNR1
Chr MTs-rRNA
Also known as: MTRNR1
This gene encodes the mitochondrial 12S ribosomal RNA, which forms part of the small mitoribosomal subunit and is essential for translation of all mitochondrial DNA-encoded proteins. Mutations cause non-syndromic sensorineural hearing loss and aminoglycoside-induced ototoxicity, with the m.1555A>G variant being particularly clinically significant as aminoglycoside exposure leads to irreversible hearing loss in carriers. Inheritance is maternal through the mitochondrial genome.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
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
83 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 2 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 15 |
Likely Benign | — | — | — | — | 39 |
Benign | — | — | — | — | 24 |
| Total | — | 81 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MT-RNR1 · 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
Long Term Outcomes After Vestibular Implantation
RECRUITINGCohort Of DEafness-gene Screening
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools