OSGEPL1
Chr 2O-sialoglycoprotein endopeptidase like 1
Also known as: OSGEPL, Qri7
The protein functions as an N(6)-L-threonylcarbamoyladenine synthase that modifies mitochondrial tRNAs by adding threonylcarbamoyl groups to adenosine at position 37, which is essential for proper mitochondrial protein synthesis and genome maintenance. Mutations cause autosomal recessive mitochondrial complex I deficiency with neurodegeneration and distinctive brain MRI abnormalities. This gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
96 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 | 26 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 47 | 1 | 0 | 48 |
Likely Benign | 1 | 0 | 0 | 0 | 1 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 1 | 48 | 28 | 1 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OSGEPL1 · 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