NDUFV1
Chr 11NADH:ubiquinone oxidoreductase core subunit V1
Also known as: CI-51K, CI51KD, MC1DN4, UQOR1
The protein is a 51 kDa subunit of mitochondrial complex I that contains the NADH-binding site and flavin mononucleotide and iron-sulfur binding sites essential for electron transport in oxidative phosphorylation. Biallelic mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, presenting as myopathies, encephalomyopathies, and neurodegenerative disorders including Leigh syndrome. Disease results from loss of function leading to impaired mitochondrial energy production.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
580 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 | 22 | 4 | 12 | 0 | 38 |
Likely Pathogenic | 22 | 19 | 5 | 0 | 46 |
VUS | 0 | 157 | 17 | 2 | 176 |
Likely Benign | 1 | 5 | 109 | 124 | 239 |
Benign | 0 | 0 | 26 | 3 | 29 |
Conflicting | — | 40 | |||
| Total | 45 | 185 | 169 | 129 | 568 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NDUFV1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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