Sugi Variant

Sugi Variant/ARHGDIA

ARHGDIA — 84 ClinVar variants

All ClinVar germline ARHGDIA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 3 Benign · 3 Benign/Likely benign · 34 Likely benign · 38 Uncertain significance

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

⚑ Evidence disagreements 31

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 lean, ClinVar uncertain 16

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

Predictors split 15

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

All ARHGDIA variants

Pathogenic 3

  • p.Arg120Ter No assertion criteria nephrotic syndrome, type 8
  • p.Asp185del No assertion criteria nephrotic syndrome, type 8
  • p.Gly173Val No assertion criteria nephrotic syndrome, type 8

Likely pathogenic 1

  • c.*167dup Single submitter nephrotic syndrome, type 8

Conflicting classifications of pathogenicity 2

Benign 3

Benign/Likely benign 3

Likely benign 34

Uncertain significance 38