Sugi Variant

Sugi Variant/TTC19

TTC19 — 301 ClinVar variants

All ClinVar germline TTC19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

13 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 23 Conflicting · 31 Benign · 6 Benign/Likely benign · 78 Likely benign · 136 Uncertain significance

Full TTC19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 8

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

Predictors lean, ClinVar uncertain 54

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 TTC19 variants

Pathogenic 13

  • p.Gly201fs Multiple submitters mitochondrial complex III deficiency nuclear type 2
  • p.Leu219Ter Multiple submitters TTC19-related disorder
  • c.581+1G>A Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Arg102Ter Single submitter
  • p.Gln151Ter Single submitter mitochondrial disease
  • p.Gln265Ter Single submitter
  • p.Glu156fs Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Glu216fs Single submitter
  • p.Glu273Ter Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Leu100fs Single submitter
  • p.Gln173Ter No assertion criteria mitochondrial complex III deficiency nuclear type 2
  • p.Gln277Ter No assertion criteria mitochondrial complex III deficiency nuclear type 2
  • p.Leu240fs No assertion criteria mitochondrial complex III deficiency nuclear type 2

Pathogenic/Likely pathogenic 3

  • c.581+1G>C Multiple submitters
  • p.Gln195Ter Multiple submitters mitochondrial complex III deficiency nuclear type 2
  • p.Leu185Pro Multiple submitters mitochondrial complex III deficiency nuclear type 2

Likely pathogenic 11

  • c.184+1G>A Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.423+1G>C Single submitter
  • c.424-1G>A Single submitter
  • c.463-1G>C Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.519+2T>A Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.520-2A>G Single submitter
  • c.581+1_581+5del Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.581+1G>T Single submitter TTC19-related disorder
  • c.677-1_680del Single submitter TTC19-related disorder
  • p.Leu32fs Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Met302fs Single submitter mitochondrial complex III deficiency nuclear type 2

Conflicting classifications of pathogenicity 23

  • c.284C>T Single submitter Inborn genetic diseases
  • c.313-4T>C Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.677-6C>T Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.-1C>T Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.*1194T>A Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.*195A>G Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.*27G>A Single submitter mitochondrial complex III deficiency nuclear type 2
  • c.*335C>T Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Arg274Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg333Ter Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Arg3Trp Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠
  • p.Asp121= Single submitter
  • p.Gln347= Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Gln41Arg Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠
  • p.Ile300Leu Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠
  • p.Ile355Val Single submitter Inborn genetic diseases ⚠
  • p.Leu9= Single submitter mitochondrial complex III deficiency nuclear type 2
  • p.Met1Val Single submitter Inborn genetic diseases
  • p.Met238Thr Single submitter Inborn genetic diseases ⚠
  • p.Met302Ile Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠
  • p.Phe204Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro253Leu Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠
  • p.Thr335Ile Single submitter mitochondrial complex III deficiency nuclear type 2 ⚠

Benign 31

Benign/Likely benign 6

Likely benign 78

Uncertain significance 136