RAB39A — 11 ClinVar variants
All ClinVar germline RAB39A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Likely benign · 10 Uncertain significance
Full RAB39A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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.
- RAB39A p.Arg80Leu Uncertain significance Single submitter
- RAB39A p.Arg99Gln Uncertain significance Single submitter
- RAB39A p.Gln187His Uncertain significance Single submitter
- RAB39A p.Gly182Glu Uncertain significance Single submitter
- RAB39A p.Ile170Val Uncertain significance Single submitter
- RAB39A p.Met113Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All RAB39A variants
Likely benign 1
- p.Arg76= Single submitter
Uncertain significance 10
- p.Arg139Ser Single submitter
- p.Arg80Leu Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Gln187His Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Met113Ile Single submitter ⚠
- p.Ser81Thr Single submitter
- p.Thr172Met Single submitter ⚠
- p.Trp190Arg Single submitter ⚠