Sugi Variant

Sugi Variant/NDUFS4

NDUFS4 — 192 ClinVar variants

All ClinVar germline NDUFS4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

14 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 4 Conflicting · 23 Benign · 2 Benign/Likely benign · 70 Likely benign · 52 Uncertain significance

Full NDUFS4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

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 1

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

Predictors lean, ClinVar uncertain 28

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

Predictors split 10

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

All NDUFS4 variants

Pathogenic 14

Pathogenic/Likely pathogenic 6

  • c.350+1G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Arg106Ter Multiple submitters NDUFS4-related disorders
  • p.Asp119His Multiple submitters mitochondrial complex I deficiency
  • p.Lys158fs Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Thr74fs Multiple submitters Leigh syndrome
  • p.Trp107fs Multiple submitters Inborn genetic diseases

Likely pathogenic 21

  • c.351-1G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Gly142Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Tyr160fs Multiple submitters Leigh syndrome
  • c.350+1G>C Single submitter
  • c.351-1G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.351-2A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.351-2A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.424+2T>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg169fs Single submitter Leigh syndrome
  • p.Gln46fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Glu139Ter Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ile79fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Leu126fs Single submitter
  • p.Lys151fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Lys96fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Met99fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Thr39fs Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Trp114Ter Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Trp143Ter Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Trp40Ter Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Tyr160Ter Single submitter mitochondrial complex I deficiency, nuclear type 1

Conflicting classifications of pathogenicity 4

  • c.178-4G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ser136Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser34= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Thr50= Single submitter mitochondrial complex I deficiency, nuclear type 1

Benign 23

Benign/Likely benign 2

Likely benign 70

Uncertain significance 52