Sugi Variant

Sugi Variant/MBTPS2

MBTPS2 — 219 ClinVar variants

All ClinVar germline MBTPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 14 Conflicting · 22 Benign · 12 Benign/Likely benign · 50 Likely benign · 103 Uncertain significance

Full MBTPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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 9

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 37

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

All MBTPS2 variants

Pathogenic 14

  • c.970+5G>A Multiple submitters IFAP syndrome 1, with or without BRESHECK syndrome
  • p.Arg429His Multiple submitters IFAP syndrome 1, with or without BRESHECK syndrome
  • p.Asn508Ser Multiple submitters keratosis follicularis spinulosa decalvans, X-linked
  • p.Ala324Thr Single submitter IFAP syndrome 1, with or without BRESHECK syndrome ⚠
  • p.Asn459Ser Single submitter osteogenesis imperfecta, type 19
  • p.Gly253Ala Single submitter
  • c.671-9T>G No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome
  • p.His227Leu No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome
  • p.Leu505Phe No assertion criteria osteogenesis imperfecta, type 19 ⚠
  • p.Met87Ile No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome ⚠
  • p.Phe464Ser No assertion criteria Olmsted syndrome, X-linked
  • p.Phe475Ser No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome ⚠
  • p.Pro438Leu No assertion criteria hypercholesterolemia, familial, 1
  • p.Trp226Leu No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome

Pathogenic/Likely pathogenic 1

Likely pathogenic 3

Conflicting classifications of pathogenicity 14

Benign 22

Benign/Likely benign 12

Likely benign 50

Uncertain significance 103