Sugi Variant

Sugi Variant/CRAT

CRAT — 350 ClinVar variants

All ClinVar germline CRAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →

1 Likely pathogenic · 4 Conflicting · 15 Benign · 2 Benign/Likely benign · 100 Likely benign · 228 Uncertain significance

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

⚑ Evidence disagreements 206

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 120

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

Predictors split 83

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

All CRAT variants

Likely pathogenic 1

  • p.Lys166fs Single submitter neurodegeneration with brain iron accumulation 8

Conflicting classifications of pathogenicity 4

Benign 15

Benign/Likely benign 2

  • p.Asn599= Multiple submitters neurodegeneration with brain iron accumulation 8
  • p.Asp484= Multiple submitters neurodegeneration with brain iron accumulation 8

Likely benign 100

Uncertain significance 228