Sugi Variant

Sugi Variant/INTU

INTU — 455 ClinVar variants

All ClinVar germline INTU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 8 Conflicting · 39 Benign · 6 Benign/Likely benign · 118 Likely benign · 277 Uncertain significance

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

⚑ Evidence disagreements 243

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 5

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

Predictors lean, ClinVar uncertain 214

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 214

Predictors split 23

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

All INTU variants

Pathogenic 2

  • p.Asn787fs Single submitter short-rib thoracic dysplasia 20 with polydactyly
  • p.Lys193fs Single submitter orofaciodigital syndrome 17

Pathogenic/Likely pathogenic 1

  • p.Asn132fs No assertion criteria orofaciodigital syndrome 17

Likely pathogenic 4

  • p.Asn436Ter Single submitter short-rib thoracic dysplasia 20 with polydactyly
  • p.Glu206Ter Single submitter
  • p.Glu355Ter Single submitter short-rib thoracic dysplasia 20 with polydactyly
  • p.Glu500Ala Single submitter short-rib thoracic dysplasia 20 with polydactyly ⚠

Conflicting classifications of pathogenicity 8

Benign 39

Benign/Likely benign 6

Likely benign 118

Uncertain significance 277