RAB8A — 19 ClinVar variants
All ClinVar germline RAB8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Likely benign · 18 Uncertain significance
Full RAB8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAB8A p.Arg71Gln Uncertain significance Single submitter
- RAB8A p.Asp31Glu Uncertain significance Single submitter
- RAB8A p.Glu134Ala Uncertain significance Single submitter
- RAB8A p.Ile118Val Uncertain significance Single submitter
- RAB8A p.Ile50Thr Uncertain significance Single submitter
- RAB8A p.Lys146Asn Uncertain significance Single submitter
- RAB8A p.Ser17Thr Uncertain significance Single submitter
- RAB8A p.Thr75Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All RAB8A variants
Likely benign 1
- p.Leu207_Ter208insLeu Single submitter Noonan syndrome 8
Uncertain significance 18
- c.124+2T>G Single submitter
- p.Arg135Trp Single submitter
- p.Arg71Gln Single submitter ⚠
- p.Asp168Glu Single submitter
- p.Asp31Glu Single submitter ⚠
- p.Glu134Ala Single submitter ⚠
- p.Glu93Lys Single submitter
- p.Ile118Val Single submitter ⚠
- p.Ile50Leu Single submitter ⚠
- p.Ile50Thr Single submitter ⚠
- p.Leu177Ser Single submitter ⚠
- p.Lys146Asn Single submitter ⚠
- p.Lys172Gln Single submitter
- p.Met148Ile Single submitter
- p.Phe163Ser Single submitter
- p.Ser17Thr Single submitter ⚠
- p.Thr75Met Single submitter ⚠
- p.Val87Ile Single submitter ⚠