NDUFV2
Chr 18ARNADH:ubiquinone oxidoreductase core subunit V2
Also known as: CI-24k, MC1DN7
The NDUFV2 protein is the 24 kDa subunit of mitochondrial respiratory chain complex I that participates in electron transfer from NADH to ubiquinone. Mutations cause mitochondrial complex I deficiency, nuclear type 7, inherited in an autosomal recessive pattern, with reported presentations including early onset hypertrophic cardiomyopathy and encephalopathy. The pathogenic mechanism appears to be dominant negative, where mutant protein disrupts normal complex I function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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.
ClinVar Variant Classifications
100 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 | 2 | 0 | 28 | 0 | 30 |
Likely Pathogenic | 1 | 1 | 1 | 0 | 3 |
VUS | 1 | 21 | 8 | 1 | 31 |
Likely Benign | 0 | 0 | 17 | 5 | 22 |
Benign | 0 | 0 | 11 | 0 | 11 |
Conflicting | — | 3 | |||
| Total | 4 | 22 | 65 | 6 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NDUFV2 · 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