Sugi Variant

Sugi Variant/TTPA

TTPA — 465 ClinVar variants

All ClinVar germline TTPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

33 Pathogenic · 17 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 12 Conflicting · 14 Benign · 6 Benign/Likely benign · 163 Likely benign · 183 Uncertain significance

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

⚑ Evidence disagreements 129

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 4

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

Predictors lean, ClinVar uncertain 97

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 TTPA variants

Pathogenic 33

Pathogenic/Likely pathogenic 17

  • c.205-2A>G Multiple submitters familial isolated deficiency of vitamin E
  • c.663+1G>A Multiple submitters familial isolated deficiency of vitamin E
  • p.Ala120Thr Multiple submitters TTPA-related disorder ⚠
  • p.Arg221Trp Multiple submitters CHD7-related CHARGE syndrome
  • p.Arg5Ter Multiple submitters familial isolated deficiency of vitamin E
  • p.Gln25fs Multiple submitters familial isolated deficiency of vitamin E
  • p.Gln7fs Multiple submitters Inborn genetic diseases
  • p.Gln7Ter Multiple submitters familial isolated deficiency of vitamin E
  • p.Glu141Lys Multiple submitters familial isolated deficiency of vitamin E
  • p.His101fs Multiple submitters familial isolated deficiency of vitamin E
  • p.Ile218fs Multiple submitters familial isolated deficiency of vitamin E
  • p.Leu196_Ile197insTer Multiple submitters familial isolated deficiency of vitamin E
  • p.Leu31fs Multiple submitters familial isolated deficiency of vitamin E
  • p.Met1Lys Multiple submitters familial isolated deficiency of vitamin E
  • p.Met1Thr Multiple submitters TTPA-related disorder
  • p.Phe61fs Multiple submitters familial isolated deficiency of vitamin E
  • p.Thr184= Multiple submitters familial isolated deficiency of vitamin E

Likely pathogenic 37

  • p.Ala58Asp Multiple submitters familial isolated deficiency of vitamin E
  • p.Gly27fs Multiple submitters familial isolated deficiency of vitamin E
  • p.His101Gln Multiple submitters familial isolated deficiency of vitamin E ⚠
  • c.204+1G>T Single submitter familial isolated deficiency of vitamin E
  • c.204+2T>C Single submitter
  • c.204+2T>G Single submitter
  • c.205-1del Single submitter familial isolated deficiency of vitamin E
  • c.358+1G>A Single submitter
  • c.358+2T>C Single submitter familial isolated deficiency of vitamin E
  • c.358+2T>G Single submitter familial isolated deficiency of vitamin E
  • c.359-3_359delinsAGT Single submitter familial isolated deficiency of vitamin E
  • c.552+1G>T Single submitter
  • c.664-2A>G Single submitter familial isolated deficiency of vitamin E
  • p.Ala156fs Single submitter familial isolated deficiency of vitamin E
  • p.Ala58Pro Single submitter familial isolated deficiency of vitamin E
  • p.Arg151fs Single submitter familial isolated deficiency of vitamin E
  • p.Asn72fs Single submitter familial isolated deficiency of vitamin E
  • p.Glu146fs Single submitter familial isolated deficiency of vitamin E
  • p.Glu216fs Single submitter
  • p.Glu267fs Single submitter Abnormal central motor function
  • p.Leu189fs Single submitter familial isolated deficiency of vitamin E
  • p.Leu23fs Single submitter familial isolated deficiency of vitamin E
  • p.Leu47fs Single submitter familial isolated deficiency of vitamin E
  • p.Leu53fs Single submitter TTPA-related disorder
  • p.Lys177fs Single submitter familial isolated deficiency of vitamin E
  • p.Lys75Ter Single submitter familial isolated deficiency of vitamin E
  • p.Pro22fs Single submitter TTPA-related disorder
  • p.Pro41fs Single submitter familial isolated deficiency of vitamin E
  • p.Ser50fs Single submitter familial isolated deficiency of vitamin E
  • p.Thr128fs Single submitter familial isolated deficiency of vitamin E
  • p.Trp163Ter Single submitter familial isolated deficiency of vitamin E
  • p.Val114fs Single submitter familial isolated deficiency of vitamin E
  • p.Arg105Ter No assertion criteria familial isolated deficiency of vitamin E
  • p.Asn198fs No assertion criteria familial isolated deficiency of vitamin E
  • p.Glu148fs No assertion criteria familial isolated deficiency of vitamin E
  • p.Ser186Ter No assertion criteria familial isolated deficiency of vitamin E
  • p.Tyr73Ter No assertion criteria familial isolated deficiency of vitamin E

Conflicting classifications of pathogenicity 12

  • c.204+6C>T Single submitter familial isolated deficiency of vitamin E
  • c.358+15A>G Single submitter familial isolated deficiency of vitamin E
  • c.553-6C>T Single submitter
  • p.Ala2= Single submitter
  • p.Arg192His Single submitter TTPA-related disorder ⚠
  • p.Arg59Trp Single submitter TTPA-related disorder ⚠
  • p.Arg68= Single submitter familial isolated deficiency of vitamin E
  • p.Glu249Lys Single submitter ⚠
  • p.Ile119Val Single submitter familial isolated deficiency of vitamin E ⚠
  • p.Lys113Arg Single submitter familial isolated deficiency of vitamin E ⚠
  • p.Ser174= Single submitter familial isolated deficiency of vitamin E
  • p.Ser186= Single submitter familial isolated deficiency of vitamin E

Benign 14

Benign/Likely benign 6

  • c.205-18T>G Multiple submitters
  • c.553-12dup Multiple submitters
  • c.663+11T>C Multiple submitters familial isolated deficiency of vitamin E
  • p.Ala16= Multiple submitters familial isolated deficiency of vitamin E
  • p.Asp49= Multiple submitters familial isolated deficiency of vitamin E
  • p.Ile157= Multiple submitters familial isolated deficiency of vitamin E

Likely benign 163

Uncertain significance 183