NDUFS1

Chr 2AR

NADH:ubiquinone oxidoreductase core subunit S1

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 0.811 OMIM phenotype
Clinical SummaryNDUFS1
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 2.53
OE 0.57 (0.410.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.08Z-score
OE missense 1.01 (0.931.10)
413 obs / 408.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.410.81)
00.351.4
Missense OE?1.01 (0.931.10)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 23 / 40.3Missense obs/exp: 413 / 408.7Syn Z: -0.41
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveNDUFS1-related mitochondrial complex I deficiencyOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6260th %ile
GOF
0.5170th %ile
LOF
0.4037th %ile

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NDUFS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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