Sugi Variant

Sugi Variant/F7

F7 — 336 ClinVar variants

All ClinVar germline F7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

27 Pathogenic · 21 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 28 Conflicting · 17 Benign · 3 Benign/Likely benign · 34 Likely benign · 166 Uncertain significance

Full F7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 159

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 11

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 78

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

All F7 variants

Pathogenic 27

Pathogenic/Likely pathogenic 21

  • c.364+1G>A Multiple submitters myocardial infarction, susceptibility to
  • c.505+78G>A Multiple submitters congenital factor VII deficiency
  • c.615+1G>T Multiple submitters factor VII deficiency
  • c.64+5G>A Multiple submitters
  • c.739+1G>A Multiple submitters myocardial infarction, susceptibility to
  • c.-55C>T Multiple submitters congenital factor VII deficiency
  • p.Ala282Val Multiple submitters myocardial infarction, susceptibility to ⚠
  • p.Ala332Val Multiple submitters congenital factor VII deficiency ⚠
  • p.Arg285His Multiple submitters congenital factor VII deficiency ⚠
  • p.Arg440Ter Multiple submitters congenital factor VII deficiency
  • p.Cys173Arg Multiple submitters congenital factor VII deficiency
  • p.Cys348Phe Multiple submitters congenital factor VII deficiency
  • p.Cys367Gly Multiple submitters myocardial infarction, susceptibility to
  • p.Gln138Arg Multiple submitters myocardial infarction, susceptibility to
  • p.Glu52fs Multiple submitters congenital factor VII deficiency
  • p.Met1Thr Multiple submitters
  • p.Pro442fs Multiple submitters myocardial infarction, susceptibility to
  • p.Thr219Asn Multiple submitters factor VII deficiency ⚠
  • p.Thr362Met Multiple submitters factor VII deficiency ⚠
  • p.Val22Ile Multiple submitters congenital factor VII deficiency ⚠
  • p.Val290Met Multiple submitters congenital factor VII deficiency ⚠

Likely pathogenic 40

Conflicting classifications of pathogenicity 28

Benign 17

Benign/Likely benign 3

  • c.64+8C>T Multiple submitters factor VII deficiency
  • p.Ala368= Multiple submitters factor VII deficiency
  • p.Pro36= Multiple submitters factor VII deficiency

Likely benign 34

Uncertain significance 166