Sugi Variant

Sugi Variant/NDUFAF3

NDUFAF3 — 100 ClinVar variants

All ClinVar germline NDUFAF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 12 Conflicting · 2 Benign · 31 Likely benign · 51 Uncertain significance

Full NDUFAF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 33

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 agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 24

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 6

The independent predictors disagree with each other — read with care.

All NDUFAF3 variants

Pathogenic 2

  • p.Arg122Pro No assertion criteria mitochondrial complex I deficiency, nuclear type 18
  • p.Ser101Asn No assertion criteria mitochondrial complex I deficiency, nuclear type 18

Likely pathogenic 2

  • p.Ala165Val Single submitter mitochondrial complex I deficiency, nuclear type 18
  • p.Cys150fs Single submitter

Conflicting classifications of pathogenicity 12

  • c.271-10C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.338-12A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.438+9C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-363C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala37Thr Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Asn64Thr Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Asp61Ter Single submitter mitochondrial complex I deficiency
  • p.Gly164fs Single submitter mitochondrial complex I deficiency, nuclear type 18
  • p.Ile114= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Leu104= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ser65Cys Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Tyr63Ter Single submitter mitochondrial complex I deficiency, nuclear type 1

Benign 2

Likely benign 31

Uncertain significance 51

  • c.-241C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*98A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Asn154Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gln129Arg Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Gly92Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile112= Multiple submitters mitochondrial complex I deficiency, nuclear type 18
  • p.Ser9Ile Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
  • c.270+6T>C Single submitter
  • c.271-8del Single submitter
  • c.271-9C>T Single submitter
  • c.-126G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-127G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-143A>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-249C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-369C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-370A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-489T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-503G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-503G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*169G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*194G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*243G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg161Gln Single submitter ⚠
  • p.Asn148Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp96His Single submitter ⚠
  • p.Cys150Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln144Arg Single submitter ⚠
  • p.Gln184Arg Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Gln184Ter Single submitter mitochondrial complex I deficiency, nuclear type 18
  • p.Gln51Leu Single submitter Inborn genetic diseases ⚠
  • p.Gly172Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly173Arg Single submitter mitochondrial complex I deficiency, nuclear type 18 ⚠
  • p.Gly173Val Single submitter Inborn genetic diseases ⚠
  • p.His158Leu Single submitter ⚠
  • p.Ile112Leu Single submitter ⚠
  • p.Leu10Ser Single submitter ⚠
  • p.Leu179Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Leu50Pro Single submitter ⚠
  • p.Phe155Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro171Leu Single submitter ⚠
  • p.Pro83Leu Single submitter ⚠
  • p.Ser178Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser48Cys Single submitter mitochondrial complex I deficiency, nuclear type 18 ⚠
  • p.Ser48Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr123Ser Single submitter Inborn genetic diseases ⚠
  • p.Val115Leu Single submitter Inborn genetic diseases ⚠
  • p.Val116Ala Single submitter Inborn genetic diseases ⚠
  • p.Val116Met Single submitter Inborn genetic diseases ⚠
  • p.Val141Ala Single submitter ⚠
  • p.Val143Ala Single submitter
  • p.Val86= Single submitter mitochondrial complex I deficiency, nuclear type 1