Sugi Variant

Sugi Variant/F13B

F13B — 173 ClinVar variants

All ClinVar germline F13B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

9 Pathogenic · 7 Likely pathogenic · 9 Conflicting · 17 Benign · 1 Benign/Likely benign · 14 Likely benign · 116 Uncertain significance

Full F13B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 3

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 15

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

All F13B variants

Pathogenic 9

  • p.Tyr100Ter Multiple submitters Coagulation factor deficiency syndrome
  • p.Gly189Ter Single submitter factor XIII, b subunit, deficiency of
  • p.Leu55fs Single submitter
  • p.Leu577fs Single submitter factor XIII, b subunit, deficiency of
  • p.Lys4Ter Single submitter factor XIII, b subunit, deficiency of
  • p.Pro386fs Single submitter factor XIII, b subunit, deficiency of
  • c.65-2del No assertion criteria factor XIII, b subunit, deficiency of
  • p.Cys450Phe No assertion criteria factor XIII, b subunit, deficiency of
  • p.Glu500fs No assertion criteria factor XIII, b subunit, deficiency of

Likely pathogenic 7

  • c.805+1G>A Multiple submitters factor XIII, b subunit, deficiency of
  • p.Cys439Ter Single submitter factor XIII, b subunit, deficiency of
  • p.Cys59fs Single submitter factor XIII, b subunit, deficiency of
  • p.Glu31Ter Single submitter Susceptibility to severe COVID-19
  • p.Ile101Asn Single submitter ⚠
  • p.Leu216Ter Single submitter factor XIII, b subunit, deficiency of
  • p.Lys352Ter Single submitter F13B-related disorder

Conflicting classifications of pathogenicity 9

  • c.1556-13C>A Single submitter factor XIII, b subunit, deficiency of
  • p.Cys118= Single submitter factor XIII, b subunit, deficiency of
  • p.Cys255= Single submitter factor XIII, b subunit, deficiency of
  • p.Glu388Val Single submitter congenital factor XIII deficiency ⚠
  • p.His350Arg Single submitter factor XIII, b subunit, deficiency of ⚠
  • p.His605= Single submitter factor XIII, b subunit, deficiency of
  • p.Ile342Thr Single submitter factor XIII, b subunit, deficiency of ⚠
  • p.Leu529Pro Single submitter factor XIII, b subunit, deficiency of ⚠
  • p.Lys190= Single submitter factor XIII, b subunit, deficiency of

Benign 17

Benign/Likely benign 1

  • p.Asp569Glu Multiple submitters factor XIII, b subunit, deficiency of

Likely benign 14

Uncertain significance 116