Sugi Variant

Sugi Variant/NDUFS3

NDUFS3 — 159 ClinVar variants

All ClinVar germline NDUFS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 10 Conflicting · 5 Benign · 44 Likely benign · 91 Uncertain significance

Full NDUFS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 59

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

Predictors split 13

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

All NDUFS3 variants

Pathogenic 3

Pathogenic/Likely pathogenic 2

  • p.Arg199Trp Multiple submitters mitochondrial complex I deficiency, nuclear type 8
  • p.Thr145Ile Multiple submitters mitochondrial complex I deficiency, nuclear type 8

Likely pathogenic 4

  • c.382-1del Single submitter mitochondrial complex I deficiency, nuclear type 8
  • p.Arg140Gly Single submitter mitochondrial complex I deficiency, nuclear type 8
  • p.Met1Arg Single submitter
  • p.Met1Ile Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 10

  • c.628-7C>T Single submitter mitochondrial complex I deficiency, nuclear type 8
  • p.Ala41= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg125His Single submitter mitochondrial complex I deficiency ⚠
  • p.Leu31= Single submitter Leigh syndrome
  • p.Pro197= Single submitter mitochondrial complex I deficiency, nuclear type 8
  • p.Pro249= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Pro261= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Val119Ile Single submitter Inborn genetic diseases ⚠
  • p.Val159Leu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Val219= Single submitter mitochondrial complex I deficiency, nuclear type 1

Benign 5

Likely benign 44

Uncertain significance 91