Sugi Variant

Sugi Variant/UQCRC2

UQCRC2 — 190 ClinVar variants

All ClinVar germline UQCRC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 3 Conflicting · 16 Benign · 4 Benign/Likely benign · 67 Likely benign · 92 Uncertain significance

Full UQCRC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 2

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 17

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

All UQCRC2 variants

Pathogenic 2

  • p.Gly222Ala Single submitter mitochondrial complex III deficiency nuclear type 5
  • p.Gly108Asp No assertion criteria mitochondrial complex III deficiency nuclear type 5

Pathogenic/Likely pathogenic 1

  • p.Arg183Trp Multiple submitters mitochondrial complex III deficiency nuclear type 5

Likely pathogenic 5

Conflicting classifications of pathogenicity 3

Benign 16

Benign/Likely benign 4

Likely benign 67

Uncertain significance 92