Sugi Variant

Sugi Variant/TIMM50

TIMM50 — 368 ClinVar variants

All ClinVar germline TIMM50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 5 Conflicting · 19 Benign · 4 Benign/Likely benign · 170 Likely benign · 164 Uncertain significance

Full TIMM50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 98

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

Predictors split 37

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

All TIMM50 variants

Pathogenic 4

  • p.Ala222Thr Single submitter 3-methylglutaconic aciduria type 9 ⚠
  • p.Gly269Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly87Ala Single submitter Mitochondrial encephalopathy
  • p.Ser9Ter Single submitter Mitochondrial encephalopathy

Likely pathogenic 2

  • p.Thr149Met Multiple submitters 3-methylglutaconic aciduria type 9
  • p.Gln110Ter Single submitter 3-methylglutaconic aciduria type 9

Conflicting classifications of pathogenicity 5

Benign 19

Benign/Likely benign 4

  • c.598-15C>T Multiple submitters 3-methylglutaconic aciduria type 9
  • p.Gly156= Multiple submitters
  • p.Ser9Trp Multiple submitters 3-methylglutaconic aciduria type 9
  • p.Thr155= Multiple submitters

Likely benign 170

Uncertain significance 164