NUDT7

Chr 16

nudix hydrolase 7

NCBI Gene: 283927 ENSG00000140876 UniProt: P0C024 OMIM: 609231

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.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

LOEUF 1.92

Clinical Summary— NUDT7

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

51 VUS of 64 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.92LOEUF

pLI 0.000

Z-score -0.88

OE 1.40 (0.78–1.92)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.83Z-score

OE missense 1.20 (1.05–1.36)

164 obs / 136.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.40 (0.78–1.92)

0≤0.351.4

Missense OE?1.20 (1.05–1.36)

0≤0.61.4

Synonymous OE?1.32

0≤1.21.6

LoF obs/exp: 8 / 5.7Missense obs/exp: 164 / 136.8Syn Z: -1.82

ClinVar Variant Classifications

64 submitted variants in ClinVar

ClinVar

Classification Summary

VUS51

Likely Benign3

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	0	51	51
Likely Benign	0	3	3
Benign	1	0	1
Total	1	54	55

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

29 pathogenic / likely-pathogenic (of 64) ClinVar copy-number / structural variants overlap NUDT7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →