NUDT18
Chr 8nudix hydrolase 18
Also known as: MTH3
The protein hydrolyzes oxidized nucleoside diphosphates, particularly 8-oxo-guanine-containing derivatives, to remove potentially toxic oxidized nucleotide metabolites from DNA and RNA precursor pools. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures, typically presenting in early childhood. The gene shows extreme intolerance to loss-of-function variants, indicating it is highly constrained and essential for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
119 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 | 78 | 0 | 78 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 19 | 10 | 0 | 29 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 21 | 92 | 0 | 113 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUDT18 · 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