Sugi Variant

Sugi Variant/IFT54

IFT54 — 170 ClinVar variants

All ClinVar germline IFT54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 18 Conflicting · 4 Benign · 12 Benign/Likely benign · 84 Likely benign · 38 Uncertain significance

Full IFT54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 11

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

Predictors lean, ClinVar uncertain 28

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

Predictors split 9

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

All IFT54 variants

Pathogenic/Likely pathogenic 4

  • p.Arg565Ter Multiple submitters Senior-Loken syndrome 9
  • p.Asp233fs Multiple submitters Senior-Loken syndrome 9
  • p.Glu497fs Multiple submitters TRAF3IP1-related disorder
  • p.Trp572Ter Multiple submitters TRAF3IP1-related disorder

Likely pathogenic 10

  • c.1159+1G>C Multiple submitters TRAF3IP1-related disorder
  • c.988-1G>A Multiple submitters TRAF3IP1-related disorder
  • c.988-1G>C Multiple submitters TRAF3IP1-related disorder
  • p.Ala391fs Single submitter TRAF3IP1-related disorder
  • p.Arg182Ter Single submitter TRAF3IP1-related disorder
  • p.Arg211fs Single submitter TRAF3IP1-related disorder
  • p.Arg348Ter Single submitter TRAF3IP1-related disorder
  • p.Gln379Ter Single submitter TRAF3IP1-related disorder
  • p.Glu57Lys Single submitter TRAF3IP1-related disorder
  • p.Leu517fs Single submitter TRAF3IP1-related disorder

Conflicting classifications of pathogenicity 18

Benign 4

Benign/Likely benign 12

Likely benign 84

Uncertain significance 38