Sugi Variant

Sugi Variant/SURF1

SURF1 — 708 ClinVar variants

All ClinVar germline SURF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

81 Pathogenic · 28 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 26 Conflicting · 13 Benign · 10 Benign/Likely benign · 300 Likely benign · 203 Uncertain significance

Full SURF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 2

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 128

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

Predictors split 47

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

All SURF1 variants

Pathogenic 81

  • c.240+1G>T Multiple submitters Leigh syndrome
  • c.516-1G>A Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.516-2A>G Multiple submitters Leigh syndrome
  • c.588+1G>C Multiple submitters Leigh syndrome
  • c.751+1G>A Multiple submitters Leigh syndrome
  • c.833+1G>A Multiple submitters Leigh syndrome
  • p.Arg123fs Multiple submitters Leigh syndrome
  • p.Arg230Ter Multiple submitters Leigh syndrome
  • p.Arg264fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Gln196Ter Multiple submitters SURF1-related disorder
  • p.Gln214Ter Multiple submitters Leigh syndrome
  • p.Gln251fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Gln251Ter Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Gln273Ter Multiple submitters Leigh syndrome
  • p.Gln63Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro104_Leu105insTer Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Pro258_Gly261del Multiple submitters Leigh syndrome
  • p.Pro258fs Multiple submitters Leigh syndrome
  • p.Ser282fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Ser52fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Thr253fs Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • p.Trp227Ter Multiple submitters Leigh syndrome
  • p.Trp278Ter Multiple submitters Leigh syndrome
  • p.Tyr274Cys Multiple submitters Leigh syndrome
  • c.107-2A>G Single submitter Charcot-Marie-Tooth disease type 4K
  • c.240+1G>A Single submitter Leigh syndrome
  • c.323+1G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.516_517del Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.54+1G>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.588+1G>A Single submitter Leigh syndrome
  • c.589-1G>C Single submitter Leigh syndrome
  • c.589-1G>T Single submitter
  • c.823_833+7del Single submitter
  • c.830_833+4del Single submitter Leigh syndrome
  • c.833+1G>T Single submitter Leigh syndrome
  • p.Ala107fs Single submitter
  • p.Ala107Ser Single submitter ⚠
  • p.Ala13fs Single submitter Leigh syndrome
  • p.Ala21fs Single submitter Leigh syndrome
  • p.Arg18fs Single submitter Leigh syndrome
  • p.Asn89_Leu90del Single submitter Leigh syndrome
  • p.Gln193Ter Single submitter Leigh syndrome
  • p.Gln262Ter Single submitter Leigh syndrome
  • p.Gln273fs Single submitter
  • p.Gln80His Single submitter Inborn genetic diseases
  • p.Gln8fs Single submitter Leigh syndrome
  • p.Glu270fs Single submitter Leigh syndrome
  • p.Glu270Ter Single submitter Leigh syndrome
  • p.Glu57fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Glu95fs Single submitter Leigh syndrome
  • p.Gly124Glu Single submitter Leigh syndrome
  • p.Gly195fs Single submitter Leigh syndrome
  • p.Gly199fs Single submitter Leigh syndrome
  • p.Gly261fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Ile91fs Single submitter Leigh syndrome
  • p.Leu105_Pro106del Single submitter
  • p.Leu16fs Single submitter Leigh syndrome
  • p.Leu176fs Single submitter Leigh syndrome
  • p.Leu281fs Single submitter Leigh syndrome
  • p.Lys121Ter Single submitter Leigh syndrome
  • p.Lys186fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Lys194fs Single submitter Leigh syndrome
  • p.Met1Ile Single submitter Leigh syndrome
  • p.Met1Leu Single submitter Leigh syndrome
  • p.Met1Val Single submitter Leigh syndrome
  • p.Phe181fs Single submitter Leigh syndrome
  • p.Pro104= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro255fs Single submitter Leigh syndrome
  • p.Ser158fs Single submitter Leigh syndrome
  • p.Trp289Ter Single submitter Leigh syndrome
  • p.Trp79Ter Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Tyr229_Arg230delinsTer Single submitter Leigh syndrome
  • p.Tyr274Asp Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Tyr279Ter Single submitter Leigh syndrome
  • p.Val162fs Single submitter Leigh syndrome
  • c.323+2T>C No assertion criteria mitochondrial complex IV deficiency, nuclear type 1
  • c.515+2T>G No assertion criteria mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg184fs No assertion criteria mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg192fs No assertion criteria mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro258Ser No assertion criteria Leigh syndrome
  • p.Thr156fs No assertion criteria Leigh syndrome

Pathogenic/Likely pathogenic 28

  • c.109dup Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.324-11T>G Multiple submitters Leigh syndrome
  • c.515+1del Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.752-1G>C Multiple submitters Leigh syndrome
  • c.754_755del Multiple submitters Leigh syndrome
  • c.833+1G>C Multiple submitters Leigh syndrome
  • p.Arg179fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Arg192Gln Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg192Trp Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Asn178fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Asn269fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Glu211fs Multiple submitters Leigh syndrome
  • p.Glu270_Ile275dup Multiple submitters Leigh syndrome
  • p.Gly10fs Multiple submitters Leigh syndrome
  • p.Gly257Arg Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Ile204fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Leu105fs Multiple submitters SURF1-related disorder
  • p.Leu267fs Multiple submitters Leigh syndrome
  • p.Leu62fs Multiple submitters Leigh syndrome
  • p.Leu67fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Leu7fs Multiple submitters Leigh syndrome
  • p.Leu90Pro Multiple submitters Inborn genetic diseases
  • p.Leu94fs Multiple submitters Leigh syndrome
  • p.Lys185fs Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Met1_Ala5del Multiple submitters Charcot-Marie-Tooth disease type 4K
  • p.Phe290fs Multiple submitters Leigh syndrome
  • p.Ser22fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Val276fs Multiple submitters Leigh syndrome

Likely pathogenic 47

  • c.106+1G>C Multiple submitters Leigh syndrome
  • c.55-2A>G Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.752-3C>G Multiple submitters Leigh syndrome
  • p.Glu270_Tyr274dup Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Gly180Arg Multiple submitters Leigh syndrome
  • p.Gly77Arg Multiple submitters Inborn genetic diseases
  • p.Leu105_Ala107del Multiple submitters
  • p.Thr164Ile Multiple submitters Leigh syndrome
  • p.Val177Gly Multiple submitters Leigh syndrome
  • c.(323+1_324-1 Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.324-146_516-364del Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.324-2A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.51_54+1dup Single submitter Leigh syndrome
  • c.515+2T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.516-1G>C Single submitter Leigh syndrome
  • c.54+34_55-2del Single submitter Leigh syndrome
  • c.54+40_55del Single submitter Leigh syndrome
  • c.751+5G>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.752-2A>G Single submitter SURF1-related disorder
  • c.833+1_833+2insACCTGGGGAC Single submitter Leigh syndrome
  • c.833+1del Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.833+2T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.834-2A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg179Lys Single submitter
  • p.Arg192Pro Single submitter Leigh syndrome
  • p.Asn220fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Asp127_His128delinsAlaTyr Single submitter
  • p.Asp141fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Cys168Ter Single submitter Leigh syndrome
  • p.Gln157Ter Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Gln196Arg Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Gln8Ter Single submitter Leigh syndrome
  • p.Gly124Arg Single submitter Leigh syndrome
  • p.Gly195Asp Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Gly205Glu Single submitter
  • p.Gly257Glu Single submitter Leigh syndrome
  • p.Gly260Glu Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.His271fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Leu76Ter Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Lys291Ter Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Met1Arg Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Phe74fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro215fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Thr266fs Single submitter
  • p.Val177Ala Single submitter Leigh syndrome
  • p.Val254fs Single submitter Leigh syndrome
  • p.Val300fs Single submitter mitochondrial complex IV deficiency, nuclear type 1

Conflicting classifications of pathogenicity 26

Benign 13

Benign/Likely benign 10

Likely benign 300

Uncertain significance 203