Sugi Variant

Sugi Variant/NDUFB3

NDUFB3 — 45 ClinVar variants

All ClinVar germline NDUFB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Conflicting · 8 Benign · 6 Likely benign · 24 Uncertain significance

Full NDUFB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 21

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 13

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

Predictors split 8

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

All NDUFB3 variants

Pathogenic 2

  • p.Gly40_Leu41insTer Single submitter mitochondrial complex I deficiency, nuclear type 25
  • p.Phe67fs Single submitter Inborn genetic diseases

Pathogenic/Likely pathogenic 1

  • p.Trp22Arg Multiple submitters Inborn genetic diseases

Likely pathogenic 2

  • p.Phe68fs Multiple submitters
  • p.Gln21Ter Single submitter mitochondrial complex I deficiency, nuclear type 25

Conflicting classifications of pathogenicity 2

Benign 8

Likely benign 6

Uncertain significance 24