Sugi Variant

Sugi Variant/NDUFAF2

NDUFAF2 — 144 ClinVar variants

All ClinVar germline NDUFAF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

7 Pathogenic · 5 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 13 Conflicting · 10 Benign · 4 Benign/Likely benign · 62 Likely benign · 34 Uncertain significance

Full NDUFAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 38

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 5

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 7

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

All NDUFAF2 variants

Pathogenic 7

  • p.Gln44fs Multiple submitters Leigh syndrome
  • p.Tyr62fs Multiple submitters mitochondrial complex I deficiency, nuclear type 10
  • p.Asp66fs Single submitter
  • p.Glu59fs Single submitter
  • p.Ile129fs Single submitter
  • p.Trp3Ter Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Ile35fs No assertion criteria mitochondrial complex I deficiency, nuclear type 10

Pathogenic/Likely pathogenic 5

  • p.Arg47Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Asn40fs Multiple submitters mitochondrial complex I deficiency, nuclear type 10
  • p.Met1Leu Multiple submitters mitochondrial complex I deficiency, nuclear type 10
  • p.Trp74Ter Multiple submitters NDUFAF2-related disorder
  • p.Tyr38Ter Multiple submitters NDUFAF2-related disorder

Likely pathogenic 9

  • c.128-4_128-2del Single submitter
  • p.Asn56fs Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Gln27Ter Single submitter
  • p.Gln5Ter Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Glu97Ter Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Leu111fs Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Leu89fs Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Ser102fs Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Trp3fs Single submitter Leigh syndrome

Conflicting classifications of pathogenicity 13

  • c.128-14C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Asn40= Single submitter
  • p.Asp66His Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Gln27Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln44Pro Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Glu141= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Glu141Val Single submitter Inborn genetic diseases ⚠
  • p.Gly151Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Gly164fs Single submitter Inborn genetic diseases
  • p.Phe138Leu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Ser14Leu Single submitter Inborn genetic diseases ⚠
  • p.Trp12Ter Single submitter mitochondrial complex I deficiency, nuclear type 10
  • p.Tyr33Cys Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠

Benign 10

Benign/Likely benign 4

Likely benign 62

Uncertain significance 34