Sugi Variant

Sugi Variant/IFT57

IFT57 — 257 ClinVar variants

All ClinVar germline IFT57 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 14 Benign · 3 Benign/Likely benign · 86 Likely benign · 148 Uncertain significance

Full IFT57 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 3

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

Predictors lean, ClinVar uncertain 93

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

Predictors split 17

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

All IFT57 variants

Pathogenic 1

  • p.Lys259= No assertion criteria orofaciodigital syndrome 18

Likely pathogenic 2

  • c.585+3A>G Multiple submitters orofaciodigital syndrome 18
  • p.Thr294fs Single submitter orofaciodigital syndrome 18

Conflicting classifications of pathogenicity 3

Benign 14

Benign/Likely benign 3

Likely benign 86

Uncertain significance 148