C8ORF58
Chr 8chromosome 8 open reading frame 58
The protein encoded by this gene functions as a component of the mitochondrial ribosome, specifically participating in mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial complex I deficiency, presenting with early-onset leigh syndrome and severe neurodegeneration. This gene is highly constrained against loss-of-function mutations, indicating its essential role in cellular energy production.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
109 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 | — | — | — | — | 79 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 12 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 98 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C8ORF58 · 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 →No open access results found
External Resources
Links to major genomics databases and tools