NUDCD1

Chr 8

NudC domain containing 1

Also known as: CML66, OVA66

NCBI Gene: 84955 ENSG00000120526 UniProt: Q96RS6 OMIM: 606109

The NUDCD1 protein is predicted to be involved in immune system processes and is located in the cytosol and nucleoplasm. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

Predicted to be involved in immune system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.01

Clinical Summary— NUDCD1

⚡

Population Constraint (gnomAD)

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

📋

ClinVar Variants

76 VUS of 99 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.01LOEUF

pLI 0.000

Z-score 1.53

OE 0.70 (0.49–1.01)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.50Z-score

OE missense 0.92 (0.83–1.01)

279 obs / 303.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.49–1.01)

0≤0.351.4

Missense OE?0.92 (0.83–1.01)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 21 / 30.1Missense obs/exp: 279 / 303.6Syn Z: 0.39

ClinVar Variant Classifications

99 submitted variants in ClinVar

ClinVar

Classification Summary

VUS76

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	76	76
Likely Benign	3	3
Benign	0	0
Total	79	79

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

View in ClinVar →

37 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap NUDCD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →