Sugi Variant

Sugi Variant/MFF

MFF — 203 ClinVar variants

All ClinVar germline MFF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 3 Conflicting · 36 Benign · 5 Benign/Likely benign · 56 Likely benign · 89 Uncertain significance

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

⚑ Evidence disagreements 81

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 3

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

Predictors lean, ClinVar uncertain 65

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

Predictors split 13

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

All MFF variants

Pathogenic 6

  • c.440+2432G>T Single submitter
  • p.Glu127fs Single submitter encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • p.Thr95fs Single submitter encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • p.Arg119Ter No assertion criteria encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • p.Arg247Ter No assertion criteria encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • p.Leu36fs No assertion criteria encephalopathy due to defective mitochondrial and peroxisomal fission 2

Pathogenic/Likely pathogenic 1

  • p.Gln38Ter No assertion criteria Global developmental delay

Likely pathogenic 7

Conflicting classifications of pathogenicity 3

  • c.440+2430C>T Single submitter Inborn genetic diseases ⚠
  • p.Thr228Ala Single submitter Inborn genetic diseases ⚠
  • p.Val135Ile Single submitter encephalopathy due to defective mitochondrial and peroxisomal fission 2 ⚠

Benign 36

Benign/Likely benign 5

  • c.-40-861G>T Multiple submitters
  • c.-40-862A>T Multiple submitters ⚠
  • p.Ala210= Multiple submitters encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • p.Leu256= Multiple submitters Inborn genetic diseases
  • p.Pro31Leu Multiple submitters encephalopathy due to defective mitochondrial and peroxisomal fission 2

Likely benign 56

Uncertain significance 89