Sugi Variant

Sugi Variant/STAMBP

STAMBP — 203 ClinVar variants

All ClinVar germline STAMBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

10 Pathogenic · 5 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 6 Conflicting · 19 Benign · 4 Benign/Likely benign · 68 Likely benign · 84 Uncertain significance

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

⚑ Evidence disagreements 78

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 agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 46

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

Predictors split 28

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

All STAMBP variants

Pathogenic 10

  • p.Asp3fs Single submitter microcephaly-capillary malformation syndrome
  • p.Cys282fs Single submitter microcephaly-capillary malformation syndrome
  • p.Gln217Ter Single submitter microcephaly-capillary malformation syndrome
  • p.His163fs Single submitter
  • p.Met168fs Single submitter
  • p.Phe100Tyr Single submitter microcephaly-capillary malformation syndrome ⚠
  • p.Phe405fs Single submitter
  • p.Thr313Ile Single submitter
  • p.Ile138fs No assertion criteria microcephaly-capillary malformation syndrome
  • p.Ser236Phe No assertion criteria microcephaly-capillary malformation syndrome

Pathogenic/Likely pathogenic 5

  • c.279+5G>T Multiple submitters microcephaly-capillary malformation syndrome
  • p.Arg113Ter Multiple submitters microcephaly-capillary malformation syndrome
  • p.Arg178Ter Multiple submitters microcephaly-capillary malformation syndrome
  • p.Arg424Ter Multiple submitters microcephaly-capillary malformation syndrome
  • p.Gln140Ter Multiple submitters

Likely pathogenic 7

  • c.1119-6T>G Multiple submitters microcephaly-capillary malformation syndrome
  • p.Arg78Ter Multiple submitters
  • p.His77Arg Multiple submitters STAMBP-related disorder
  • c.1006-2A>T Single submitter microcephaly-capillary malformation syndrome
  • c.376-1G>A Single submitter microcephaly-capillary malformation syndrome
  • c.868-1G>A Single submitter
  • p.Cys311Phe Single submitter

Conflicting classifications of pathogenicity 6

Benign 19

Benign/Likely benign 4

Likely benign 68

Uncertain significance 84