Sugi Variant

Sugi Variant/NDUFS8

NDUFS8 — 176 ClinVar variants

All ClinVar germline NDUFS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

3 Pathogenic · 11 Likely pathogenic · 20 Conflicting · 7 Benign · 5 Benign/Likely benign · 49 Likely benign · 81 Uncertain significance

Full NDUFS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 10

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

Predictors lean, ClinVar uncertain 56

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 NDUFS8 variants

Pathogenic 3

  • p.Ala159Asp No assertion criteria mitochondrial complex I deficiency, nuclear type 2
  • p.Glu63Gln No assertion criteria mitochondrial complex I deficiency, nuclear type 2
  • p.Pro85Leu No assertion criteria mitochondrial complex I deficiency, nuclear type 2

Likely pathogenic 11

  • p.Met147Ile Multiple submitters Leigh syndrome
  • c.220_372+130del Single submitter
  • c.372+1G>A Single submitter mitochondrial complex I deficiency, nuclear type 2
  • c.501+5G>A Single submitter mitochondrial complex I deficiency, nuclear type 2
  • p.Arg102Cys Single submitter mitochondrial complex I deficiency, nuclear type 2
  • p.Arg57Pro Single submitter mitochondrial complex I deficiency, nuclear type 2
  • p.Asp146Asn Single submitter
  • p.Cys114Ter Single submitter mitochondrial complex I deficiency, nuclear type 2
  • p.Glu109Lys Single submitter mitochondrial complex I deficiency, nuclear type 2
  • p.Glu98Lys Single submitter
  • p.Tyr143Phe Single submitter

Conflicting classifications of pathogenicity 20

  • c.200-14C>T Single submitter Leigh syndrome
  • c.501+12C>G Single submitter Leigh syndrome
  • c.502-10C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.502-13C>T Single submitter Leigh syndrome
  • p.Ala100Val Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg102His Single submitter mitochondrial complex I deficiency, nuclear type 2 ⚠
  • p.Arg103Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg138His Single submitter mitochondrial complex I deficiency, nuclear type 2 ⚠
  • p.Arg2Cys Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Arg54Trp Single submitter mitochondrial complex I deficiency, nuclear type 2 ⚠
  • p.Arg57His Single submitter ⚠
  • p.Cys153= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Gly154Ser Single submitter mitochondrial complex I deficiency, nuclear type 2 ⚠
  • p.Ile126Val Single submitter ⚠
  • p.Ile199= Single submitter Leigh syndrome
  • p.Lys115Glu Single submitter Leigh syndrome ⚠
  • p.Pro79Leu Single submitter Leigh syndrome ⚠
  • p.Pro7Thr Single submitter Leigh syndrome ⚠
  • p.Pro85= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Tyr104fs Single submitter

Benign 7

Benign/Likely benign 5

  • c.199+15T>A Multiple submitters
  • c.199+15T>G Multiple submitters Leigh syndrome
  • c.59-17C>T Multiple submitters
  • c.*14C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*40A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1

Likely benign 49

Uncertain significance 81