RAB1A — 12 ClinVar variants
All ClinVar germline RAB1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Likely pathogenic · 1 Benign · 10 Uncertain significance
Full RAB1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAB1A p.Ala170Ser Uncertain significance Single submitter
- RAB1A p.Ala185Val Uncertain significance Single submitter
- RAB1A p.Gly201Ser Uncertain significance Single submitter
- RAB1A p.Gly203Ser Uncertain significance Single submitter
- RAB1A p.Gly57Arg Uncertain significance Single submitter
- RAB1A p.Ile53Val Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RAB1A variants
Likely pathogenic 1
- p.Arg175Ter Single submitter
Benign 1
- p.Asn189Ser Multiple submitters
Uncertain significance 10
- p.Ala170Ser Single submitter ⚠
- p.Ala185Val Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Gly201Asp Single submitter ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Thr181Ile Single submitter ⚠
- p.Thr195Ala Single submitter ⚠