NUDT7
Chr 16nudix hydrolase 7
The NUDT7 protein functions as a fatty acyl-coenzyme A diphosphatase that hydrolyzes fatty acyl-CoA substrates and may regulate CoA levels in peroxisomes in response to metabolic demand. The gene shows very low intolerance to loss-of-function mutations (pLI near 0) and high tolerance to missense variants (LOEUF 1.915), but no specific disease associations with NUDT7 mutations have been established. Based on the available data, the clinical significance of NUDT7 variants in pediatric neurogenetics remains unclear.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
125 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 | 2 | 0 | 2 |
VUS | 0 | 51 | 30 | 0 | 81 |
Likely Benign | 0 | 3 | 2 | 0 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 54 | 61 | 0 | 115 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUDT7 · 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