Sugi Variant

Sugi Variant/SCO1

SCO1 — 230 ClinVar variants

All ClinVar germline SCO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

3 Pathogenic · 5 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 9 Conflicting · 28 Benign · 5 Benign/Likely benign · 61 Likely benign · 116 Uncertain significance

Full SCO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 62

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

Predictors split 18

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

All SCO1 variants

Pathogenic 3

  • p.Arg129Ter Single submitter
  • p.Lys89fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Gly132Ser No assertion criteria mitochondrial complex IV deficiency, nuclear type 4

Pathogenic/Likely pathogenic 5

  • c.364_364+1del Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Pro174Leu Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Ser88fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Trp76Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Val184fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 4

Likely pathogenic 3

  • p.Glu118fs Single submitter mitochondrial complex IV deficiency, nuclear type 4
  • p.Gly229Ser Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro90fs Single submitter mitochondrial complex IV deficiency, nuclear type 4

Conflicting classifications of pathogenicity 9

Benign 28

Benign/Likely benign 5

  • c.*272T>C Multiple submitters Leigh syndrome
  • p.Ala99= Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Asp251= Multiple submitters mitochondrial complex IV deficiency, nuclear type 4
  • p.Pro198= Multiple submitters Leigh syndrome
  • p.Pro58Ser Multiple submitters mitochondrial complex IV deficiency, nuclear type 4

Likely benign 61

Uncertain significance 116