ELAC1
Chr 18elaC ribonuclease Z 1
Also known as: D29
The ELAC1 protein is a zinc phosphodiesterase that processes tRNA 3'-ends and removes cyclic phosphates from damaged tRNAs as part of ribosome-associated quality control pathways. The gene is highly constrained against loss-of-function variants (pLI 0.88, LOEUF 0.42), suggesting mutations would likely cause severe disease, though specific associated disorders have not yet been established. Based on the constraint metrics, pathogenic variants would likely follow an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
97 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 | 40 | 0 | 40 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 45 | 3 | 0 | 48 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 46 | 44 | 0 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ELAC1 · 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