Sugi Variant

Sugi Variant/BOLA3

BOLA3 — 111 ClinVar variants

All ClinVar germline BOLA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 14 Benign · 2 Benign/Likely benign · 25 Likely benign · 58 Uncertain significance

Full BOLA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 24

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

Predictors split 24

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

All BOLA3 variants

Pathogenic 2

  • p.Arg46Ter Multiple submitters multiple mitochondrial dysfunctions syndrome 2
  • p.Glu42fs No assertion criteria multiple mitochondrial dysfunctions syndrome 2

Pathogenic/Likely pathogenic 2

  • p.Cys59Tyr Multiple submitters BOLA3-related disorder
  • p.Glu74del No assertion criteria multiple mitochondrial dysfunctions syndrome 2

Likely pathogenic 4

  • p.Ile67Asn Multiple submitters multiple mitochondrial dysfunctions syndrome 2
  • c.259-1G>C Single submitter multiple mitochondrial dysfunctions syndrome 2
  • p.Glu33fs Single submitter multiple mitochondrial dysfunctions syndrome 2
  • p.Val84Ala Single submitter multiple mitochondrial dysfunctions syndrome 2

Conflicting classifications of pathogenicity 4

  • c.258+9A>C Single submitter multiple mitochondrial dysfunctions syndrome 2
  • p.Ala7Thr Single submitter multiple mitochondrial dysfunctions syndrome 2 ⚠
  • p.Arg107Cys Single submitter multiple mitochondrial dysfunctions syndrome 2 ⚠
  • p.Arg46Gln Single submitter multiple mitochondrial dysfunctions syndrome 2 ⚠

Benign 14

Benign/Likely benign 2

  • c.54+12C>G Multiple submitters
  • p.Gly15= Multiple submitters multiple mitochondrial dysfunctions syndrome 2

Likely benign 25

Uncertain significance 58