Sugi Variant

Sugi Variant/FECH

FECH — 298 ClinVar variants

All ClinVar germline FECH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

49 Pathogenic · 10 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 11 Conflicting · 42 Benign · 7 Benign/Likely benign · 67 Likely benign · 91 Uncertain significance

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

⚑ Evidence disagreements 84

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 6

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

Predictors lean, ClinVar uncertain 51

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

Predictors split 25

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

All FECH variants

Pathogenic 49

Pathogenic/Likely pathogenic 10

  • c.1137+3A>G Multiple submitters protoporphyria, erythropoietic, 1
  • c.314+2T>G Multiple submitters FECH-related disorders
  • p.Arg115Ter Multiple submitters protoporphyria, erythropoietic, 1
  • p.Arg298Ter Multiple submitters FECH-related disorders
  • p.Arg96Ter Multiple submitters FECH-related disorders
  • p.Asp316fs Multiple submitters FECH-related disorders
  • p.Gln285Arg Multiple submitters protoporphyria, erythropoietic, 1 ⚠
  • p.Glu359= Multiple submitters FECH-related disorders
  • p.Lys379fs Multiple submitters protoporphyria, erythropoietic, 1
  • p.Pro334Leu Multiple submitters protoporphyria, erythropoietic, 1

Likely pathogenic 21

Conflicting classifications of pathogenicity 11

Benign 42

Benign/Likely benign 7

Likely benign 67

Uncertain significance 91