Sugi Variant

Sugi Variant/LIG3

LIG3 — 195 ClinVar variants

All ClinVar germline LIG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 5 Conflicting · 19 Benign · 4 Benign/Likely benign · 24 Likely benign · 128 Uncertain significance

Full LIG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 4

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

Predictors lean, ClinVar uncertain 92

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

Predictors split 25

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

All LIG3 variants

Pathogenic 7

  • c.1611+209G>A No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Arg811Ter No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Cys999Tyr No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Gly964Arg No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Lys537Asn No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Pro609Leu No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Trp29Ter No assertion criteria mitochondrial DNA depletion syndrome 20 (mngie type)

Pathogenic/Likely pathogenic 1

  • c.1209-2A>G Multiple submitters mitochondrial DNA depletion syndrome 20 (mngie type)

Likely pathogenic 7

  • p.Arg267Ter Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Arg809Ter Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Gln895Ter Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Glu632Ter Single submitter
  • p.Ile157fs Single submitter
  • p.Leu562fs Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)
  • p.Leu884_Ser885insTer Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)

Conflicting classifications of pathogenicity 5

Benign 19

Benign/Likely benign 4

Likely benign 24

Uncertain significance 128