Sugi Variant

Sugi Variant/MTFMT

MTFMT — 281 ClinVar variants

All ClinVar germline MTFMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

18 Pathogenic · 4 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 14 Conflicting · 27 Benign · 10 Benign/Likely benign · 81 Likely benign · 116 Uncertain significance

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

⚑ Evidence disagreements 113

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 2

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 18

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

All MTFMT variants

Pathogenic 18

Pathogenic/Likely pathogenic 4

  • p.Arg128Ter Multiple submitters combined oxidative phosphorylation defect type 15
  • p.Arg49fs Multiple submitters combined oxidative phosphorylation defect type 15
  • p.Phe367fs Multiple submitters mitochondrial oxidative phosphorylation disorder
  • p.Ser125Leu Multiple submitters combined oxidative phosphorylation defect type 15

Likely pathogenic 11

  • c.722-2A>G Multiple submitters combined oxidative phosphorylation defect type 15
  • p.Pro373fs Multiple submitters MTFMT-Related Disorders
  • c.209+2_209+14del Single submitter combined oxidative phosphorylation defect type 15
  • c.419+1G>C Single submitter combined oxidative phosphorylation defect type 15
  • c.419+2T>C Single submitter
  • p.Gln104Ter Single submitter combined oxidative phosphorylation defect type 15
  • p.Gln359Ter Single submitter
  • p.Pro151Leu Single submitter combined oxidative phosphorylation defect type 15
  • p.Thr341fs Single submitter Waardenburg syndrome 2F
  • p.Trp153Ter Single submitter combined oxidative phosphorylation defect type 15
  • p.Tyr118Cys Single submitter

Conflicting classifications of pathogenicity 14

Benign 27

Benign/Likely benign 10

Likely benign 81

Uncertain significance 116