Sugi Variant

Sugi Variant/SRP54

SRP54 — 353 ClinVar variants

All ClinVar germline SRP54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 27 Benign · 12 Benign/Likely benign · 161 Likely benign · 141 Uncertain significance

Full SRP54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

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 87

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

Predictors split 26

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

All SRP54 variants

Pathogenic 3

  • p.Ala223Asp No assertion criteria neutropenia, severe congenital, 8, autosomal dominant
  • p.Gly274Asp No assertion criteria neutropenia, severe congenital, 8, autosomal dominant
  • p.Thr115Ala No assertion criteria neutropenia, severe congenital, 8, autosomal dominant

Pathogenic/Likely pathogenic 2

  • p.Gly226Glu Multiple submitters Inborn genetic diseases
  • p.Thr117del Multiple submitters neutropenia, severe congenital, 8, autosomal dominant

Likely pathogenic 2

  • p.Gly113Arg Multiple submitters neutropenia, severe congenital, 8, autosomal dominant
  • p.Gly111Arg Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 5

Benign 27

Benign/Likely benign 12

Likely benign 161

Uncertain significance 141