Sugi Variant

Sugi Variant/DGUOK

DGUOK — 387 ClinVar variants

All ClinVar germline DGUOK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

35 Pathogenic · 14 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 24 Conflicting · 13 Benign · 8 Benign/Likely benign · 152 Likely benign · 124 Uncertain significance

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

⚑ Evidence disagreements 118

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 82

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 DGUOK variants

Pathogenic 35

  • c.443+1G>A Multiple submitters
  • c.707+3_707+6del Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Arg202fs Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Gln79Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • p.Glu227Lys Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Leu23fs Multiple submitters DGUOK-related disorder
  • p.Leu250Ser Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Met1Ile Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • p.Trp65Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • p.Ala86fs Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Arg105Ter Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Asp163fs Single submitter Inborn genetic diseases
  • p.Asp255del Single submitter portal hypertension
  • p.Gln197fs Single submitter
  • p.Gln76Ter Single submitter
  • p.Glu220Ter Single submitter
  • p.Gly159fs Single submitter
  • p.His226Arg Single submitter
  • p.Leu32fs Single submitter
  • p.Leu58fs Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Lys120fs Single submitter
  • p.Lys120Ter Single submitter
  • p.Lys201fs Single submitter
  • p.Lys20fs Single submitter
  • p.Lys85fs Single submitter
  • p.Met1Thr Single submitter
  • p.Met1Val Single submitter
  • p.Ser28fs Single submitter
  • p.Trp106Ter Single submitter
  • p.Trp166Ter Single submitter
  • p.Trp75Ter Single submitter
  • p.Tyr169fs Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Tyr204fs Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Val249fs Single submitter
  • p.Tyr62Ter No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

Pathogenic/Likely pathogenic 14

  • c.444-62C>A Multiple submitters DGUOK-related disorder
  • c.592-4_592-3del Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Arg118Cys Multiple submitters Inborn genetic diseases
  • p.Arg118His Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Arg142Lys Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • p.Asp255Tyr Multiple submitters portal hypertension, noncirrhotic, 1 ⚠
  • p.Gln197= Multiple submitters DGUOK-related disorder
  • p.Glu165Lys Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Glu165Val Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Glu264fs Multiple submitters Autosomal recessive DGUOK-related disorders
  • p.Glu44Lys Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • p.Leu266Arg Multiple submitters DGUOK-related disorder
  • p.Phe256Ter Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Ser52Phe Multiple submitters DGUOK-related disorder

Likely pathogenic 17

  • c.143-1G>A Single submitter
  • c.255+2T>A Single submitter
  • c.255+3_255+6del Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • c.444-1G>A Single submitter
  • c.444-1G>C Single submitter DGUOK-related disorder
  • c.591+1G>A Single submitter
  • c.591+1G>T Single submitter DGUOK-related disorder
  • c.592-26A>G Single submitter
  • c.707+1G>A Single submitter
  • c.707+2T>G Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • c.708-2A>G Single submitter
  • p.Arg208fs Single submitter DGUOK-related disorder
  • p.Gly4fs Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Phe54fs Single submitter
  • p.Val72fs Single submitter portal hypertension, noncirrhotic, 1
  • p.Leu96Pro No assertion criteria mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Lys129fs No assertion criteria mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Conflicting classifications of pathogenicity 24

  • c.143-4G>A Single submitter
  • c.256-6C>T Single submitter
  • c.256-7C>T Single submitter
  • c.444-11C>G Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • c.708-3T>C Single submitter Inborn genetic diseases
  • c.808-10C>G Single submitter
  • c.-1G>A Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Ala2Ser Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ⚠
  • p.Ala3Gly Single submitter ⚠
  • p.Asn154Lys Single submitter DGUOK-related disorder ⚠
  • p.Asn253del Single submitter
  • p.Asn253Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln122His Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ⚠
  • p.Glu210= Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.His66Gln Single submitter ⚠
  • p.Ile164= Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Leu219= Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Leu222= Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Lys135= Single submitter
  • p.Lys20= Single submitter
  • p.Phe113Leu Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ⚠
  • p.Pro71Ala Single submitter portal hypertension, noncirrhotic, 1 ⚠
  • p.Thr235= Single submitter mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Val67Ile Single submitter ⚠

Benign 13

Benign/Likely benign 8

  • c.142+9C>T Multiple submitters
  • c.256-14del Multiple submitters
  • c.256-30A>G Multiple submitters
  • c.-48G>A Multiple submitters
  • c.*206_*210dup Multiple submitters
  • p.Gln170Arg Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ⚠
  • p.Glu141= Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • p.Leu41= Multiple submitters mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Likely benign 152

Uncertain significance 124