NDUFA8 — 36 ClinVar variants
All ClinVar germline NDUFA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 2 Likely benign · 31 Uncertain significance
Full NDUFA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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NDUFA8 p.Arg55Gln
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 37
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NDUFA8 p.Tyr32Cys
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 37
- NDUFA8 p.Ala105Ser Uncertain significance Single submitter
- NDUFA8 p.Arg119Trp Uncertain significance Single submitter
- NDUFA8 p.Arg47His Uncertain significance Single submitter
- NDUFA8 p.Arg76His Uncertain significance Single submitter
- NDUFA8 p.Cys100Tyr Uncertain significance Single submitter
- NDUFA8 p.Glu155Lys Uncertain significance Single submitter
- NDUFA8 p.His31Gln Uncertain significance Single submitter
- NDUFA8 p.Ile4Met Uncertain significance Single submitter
- NDUFA8 p.Leu13Val Uncertain significance Single submitter
- NDUFA8 p.Leu25Pro Uncertain significance Single submitter
- NDUFA8 p.Lys102Arg Uncertain significance Single submitter
- NDUFA8 p.Lys61Arg Uncertain significance Single submitter
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NDUFA8 p.Met44Val
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 37
- NDUFA8 p.Phe107Cys Uncertain significance Single submitter
- NDUFA8 p.Pro138Arg Uncertain significance Single submitter
- NDUFA8 p.Pro2Arg Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- NDUFA8 p.Arg55Trp Uncertain significance Single submitter
- NDUFA8 p.Arg76Cys Uncertain significance Single submitter
- NDUFA8 p.Arg98His Uncertain significance Single submitter
- NDUFA8 p.Asp134Gly Uncertain significance Single submitter
- NDUFA8 p.Asp157Val Uncertain significance Single submitter
- NDUFA8 p.Gly156Ala Uncertain significance Single submitter
- NDUFA8 p.His30Asn Uncertain significance Single submitter
- NDUFA8 p.Pro136Leu Uncertain significance Single submitter
- NDUFA8 p.Pro136Thr Uncertain significance Single submitter
- NDUFA8 p.Val118Leu Uncertain significance Single submitter
- NDUFA8 p.Val24Ala Uncertain significance Single submitter
All NDUFA8 variants
Pathogenic 2
- p.Arg47Cys No assertion criteria mitochondrial complex I deficiency, nuclear type 37
- p.Arg98Leu No assertion criteria mitochondrial complex I deficiency, nuclear type 37
Likely pathogenic 1
- p.Arg135Ter Single submitter mitochondrial complex I deficiency, nuclear type 37
Likely benign 2
- p.Lys102= Single submitter
- p.Pro146Ala Single submitter
Uncertain significance 31
- p.Arg55Gln Multiple submitters mitochondrial complex I deficiency, nuclear type 37 ⚠
- p.Tyr32Cys Multiple submitters mitochondrial complex I deficiency, nuclear type 37 ⚠
- p.Ala105Ser Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg55Trp Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asp134Gly Single submitter ⚠
- p.Asp157Val Single submitter ⚠
- p.Cys100Tyr Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Gly156Ala Single submitter ⚠
- p.His30Asn Single submitter ⚠
- p.His31Gln Single submitter ⚠
- p.His77Asp Single submitter
- p.Ile4Met Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu25Pro Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Lys130_Val131insTer Single submitter
- p.Lys61Arg Single submitter ⚠
- p.Met44Val Single submitter mitochondrial complex I deficiency, nuclear type 37 ⚠
- p.Phe107Cys Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro136Thr Single submitter ⚠
- p.Pro138Arg Single submitter ⚠
- p.Pro2Arg Single submitter ⚠
- p.Val118Leu Single submitter ⚠
- p.Val24Ala Single submitter ⚠