Sugi Variant

Sugi Variant/NDUFA10

NDUFA10 — 379 ClinVar variants

All ClinVar germline NDUFA10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 26 Conflicting · 54 Benign · 16 Benign/Likely benign · 80 Likely benign · 194 Uncertain significance

Full NDUFA10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 94

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 6

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 28

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

All NDUFA10 variants

Pathogenic 3

  • p.Gln142Arg No assertion criteria mitochondrial complex I deficiency, nuclear type 22
  • p.Leu294Pro No assertion criteria mitochondrial complex I deficiency, nuclear type 22
  • p.Ser128_Tyr129insAsn No assertion criteria mitochondrial complex I deficiency, nuclear type 22

Likely pathogenic 6

  • p.Arg139Cys Multiple submitters mitochondrial complex I deficiency, nuclear type 22
  • c.548-2A>G Single submitter
  • p.Gly99Glu Single submitter
  • p.Leu297Pro Single submitter mitochondrial complex I deficiency, nuclear type 22 ⚠
  • p.Met1Val Single submitter mitochondrial complex I deficiency, nuclear type 22
  • p.Pro87fs Single submitter

Conflicting classifications of pathogenicity 26

  • c.1000-12427TCCCTCCTTGAAGCTGATCGT[2] Single submitter mitochondrial complex I deficiency, nuclear type 22
  • c.1000-3C>G Single submitter Leigh syndrome
  • c.548-9A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.76-2A>G Single submitter
  • c.-38T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*1453G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*183C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*1930C>G Single submitter Leigh syndrome
  • c.*2133A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*2149C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*428C>T Single submitter Leigh syndrome
  • c.*647C>T Single submitter Leigh syndrome
  • c.*679A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala78del Single submitter mitochondrial complex I deficiency, nuclear type 22
  • p.Arg139= Single submitter
  • p.Arg24Leu Single submitter Inborn genetic diseases ⚠
  • p.Asn288fs Single submitter Inborn genetic diseases
  • p.Cys183= Single submitter Leigh syndrome
  • p.His202fs Single submitter mitochondrial complex I deficiency, nuclear type 22
  • p.Leu135Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Lys84Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro335= Single submitter
  • p.Ser14Cys Single submitter mitochondrial complex I deficiency, nuclear type 22 ⚠
  • p.Tyr118= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Val193Ile Single submitter Inborn genetic diseases ⚠
  • p.Val211Ile Single submitter Inborn genetic diseases ⚠

Benign 54

Benign/Likely benign 16

  • c.1000-10del Multiple submitters
  • c.749+16G>A Multiple submitters
  • c.749+3G>A Multiple submitters
  • c.*1878C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*3075T>G Multiple submitters Leigh syndrome
  • c.*3349G>A Multiple submitters Leigh syndrome
  • c.*396C>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*407C>T Multiple submitters Leigh syndrome
  • p.Asn65Ser Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Glu238Lys Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*1217A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*1382C>T Single submitter Leigh syndrome
  • c.*2202C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*2495C>T Single submitter Leigh syndrome
  • c.*2511C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*3544C>T Single submitter mitochondrial complex I deficiency, nuclear type 1

Likely benign 80

Uncertain significance 194