Sugi Variant

Sugi Variant/RAB5C

RAB5C — 31 ClinVar variants

All ClinVar germline RAB5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →

1 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Likely benign · 27 Uncertain significance

Full RAB5C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 22

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 5

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

All RAB5C variants

Likely pathogenic 1

  • p.Gln80Arg Multiple submitters Inborn genetic diseases

Conflicting classifications of pathogenicity 1

  • p.Ser35Cys Single submitter macrocephaly-developmental delay syndrome ⚠

Benign 1

Likely benign 1

Uncertain significance 27