Sugi Variant

Sugi Variant/TFAM

TFAM — 101 ClinVar variants

All ClinVar germline TFAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

2 Likely pathogenic · 2 Conflicting · 20 Benign · 2 Benign/Likely benign · 34 Likely benign · 41 Uncertain significance

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

⚑ Evidence disagreements 40

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 1

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

Predictors lean, ClinVar uncertain 34

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

Predictors split 4

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

All TFAM variants

Likely pathogenic 2

  • p.Glu148fs Single submitter mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
  • p.Pro178Leu Single submitter mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ⚠

Conflicting classifications of pathogenicity 2

  • c.291+9A>G Single submitter mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
  • p.Val164Ile Single submitter ⚠

Benign 20

Benign/Likely benign 2

Likely benign 34

Uncertain significance 41