Sugi Variant

Sugi Variant/F13A1

F13A1 — 313 ClinVar variants

All ClinVar germline F13A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

26 Pathogenic · 3 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 16 Conflicting · 44 Benign · 5 Benign/Likely benign · 42 Likely benign · 155 Uncertain significance

Full F13A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 3

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 27

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

All F13A1 variants

Pathogenic 26

  • p.Arg662Ter Multiple submitters F13A1-related disorder
  • p.Arg682His Multiple submitters factor XIII deficiency ⚠
  • p.Gln469fs Multiple submitters factor XIII, A subunit, deficiency of
  • p.Phe9fs Multiple submitters factor XIII, A subunit, deficiency of
  • c.1305+1G>A Single submitter F13A1-related disorder
  • c.798+2T>C Single submitter factor XIII, A subunit, deficiency of
  • p.Arg175Ter Single submitter thrombophilia due to thrombin defect
  • p.Arg202fs Single submitter thrombophilia due to thrombin defect
  • p.Arg261His Single submitter factor XIII, A subunit, deficiency of
  • p.Gly211Arg Single submitter
  • p.Ile154fs Single submitter factor XIII, A subunit, deficiency of
  • p.Tyr442Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Tyr501Ter Single submitter
  • c.131_132del No assertion criteria factor XIII, A subunit, deficiency of
  • c.-19+12= No assertion criteria factor XIII, A subunit, deficiency of
  • p.Arg172Ter No assertion criteria factor XIII, A subunit, deficiency of
  • p.Asn61Lys No assertion criteria factor XIII, A subunit, deficiency of
  • p.Gln401fs No assertion criteria factor XIII, A subunit, deficiency of
  • p.Gly563Arg No assertion criteria factor XIII, A subunit, deficiency of
  • p.His606fs No assertion criteria factor XIII, A subunit, deficiency of
  • p.Met243Thr No assertion criteria factor XIII, A subunit, deficiency of ⚠
  • p.Ser174fs No assertion criteria F13A1-related disorder
  • p.Trp188Leu No assertion criteria congenital factor XIII deficiency
  • p.Tyr284Cys No assertion criteria factor XIII, A subunit, deficiency of
  • p.Val317Phe No assertion criteria factor XIII, A subunit, deficiency of
  • p.Val415Phe No assertion criteria factor XIII, A subunit, deficiency of

Pathogenic/Likely pathogenic 3

  • c.691-1G>A Multiple submitters F13A1-related disorders
  • p.Arg327Gln Multiple submitters factor XIII, A subunit, deficiency of
  • p.Arg78Cys Multiple submitters factor XIII, A subunit, deficiency of

Likely pathogenic 22

  • p.Arg409Gln Multiple submitters Intracranial hemorrhage ⚠
  • p.Gly274Arg Multiple submitters factor XIII, A subunit, deficiency of
  • c.1112+1G>A Single submitter factor XIII, A subunit, deficiency of
  • c.2046-2A>G Single submitter
  • c.799-1G>A Single submitter
  • p.Arg327Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Arg704Trp Single submitter factor XIII, A subunit, deficiency of ⚠
  • p.Arg78His Single submitter factor XIII, A subunit, deficiency of
  • p.Arg79Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Asn19_Ser20insTer Single submitter
  • p.Gln602Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Gln691Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Glu586fs Single submitter factor XIII, A subunit, deficiency of
  • p.Gly313Arg Single submitter factor XIII, A subunit, deficiency of
  • p.Gly639fs Single submitter factor XIII, A subunit, deficiency of
  • p.Leu276Phe Single submitter
  • p.Leu355Pro Single submitter
  • p.Leu668Pro Single submitter F13A1-related disorders
  • p.Ser296Arg Single submitter factor XIII, A subunit, deficiency of
  • p.Tyr241Ter Single submitter factor XIII, A subunit, deficiency of
  • p.Arg224fs No assertion criteria factor XIII, A subunit, deficiency of
  • p.His451fs No assertion criteria factor XIII, A subunit, deficiency of

Conflicting classifications of pathogenicity 16

  • c.1306-19T>C Single submitter factor XIII, A subunit, deficiency of
  • p.Ala395Val Single submitter thrombophilia due to thrombin defect ⚠
  • p.Ala587= Single submitter factor XIII, A subunit, deficiency of
  • p.Arg304Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg78Leu Single submitter factor XIII, A subunit, deficiency of ⚠
  • p.Asp344= Single submitter factor XIII, A subunit, deficiency of
  • p.Asp723= Single submitter factor XIII, A subunit, deficiency of
  • p.Gly34= Single submitter factor XIII, A subunit, deficiency of
  • p.Gly593Ser Single submitter factor XIII, A subunit, deficiency of ⚠
  • p.Leu589Gln Single submitter factor XIII, A subunit, deficiency of ⚠
  • p.Leu620= Single submitter factor XIII, A subunit, deficiency of
  • p.Phe54Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro565Leu Single submitter congenital factor XIII deficiency ⚠
  • p.Thr577Met Single submitter factor XIII, A subunit, deficiency of ⚠
  • p.Val170Ile Single submitter ⚠
  • p.Val35Leu Single submitter factor XIII, A subunit, deficiency of ⚠

Benign 44

Benign/Likely benign 5

  • p.Glu568= Multiple submitters factor XIII, A subunit, deficiency of
  • p.Glu652Gln Multiple submitters factor XIII, A subunit, deficiency of
  • p.Gly563= Multiple submitters factor XIII, A subunit, deficiency of
  • p.Phe540= Multiple submitters
  • p.Val651Ile Multiple submitters factor XIII, A subunit, deficiency of

Likely benign 42

Uncertain significance 155