RHOA — 15 ClinVar variants
All ClinVar germline RHOA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Benign · 2 Likely benign · 8 Uncertain significance
Full RHOA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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.
- RHOA p.Ala61Thr Uncertain significance Multiple submitters
- RHOA p.Ala181Thr Uncertain significance Single submitter
-
RHOA p.Ala56Val
Uncertain significance
Single submitter
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
- RHOA p.Arg168Lys Uncertain significance Single submitter
- RHOA p.Arg68His Uncertain significance Single submitter
-
RHOA p.Tyr66His
Uncertain significance
Single submitter
Inborn genetic diseases
All RHOA variants
Pathogenic 3
- p.Glu47Lys Multiple submitters neuro-ectodermal phenotype
- p.Pro71Ser Single submitter ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
- p.Gly17Val No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Likely pathogenic 1
- p.Arg70Gly Single submitter ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Benign 1
- p.Val9= Multiple submitters
Likely benign 2
- c.409-10dup Single submitter
- p.Pro138= No assertion criteria RHOA-related disorder
Uncertain significance 8
- p.Ala61Thr Multiple submitters ⚠
- c.409-605G>T Single submitter ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
- p.Ala181Thr Single submitter ⚠
- p.Ala56Val Single submitter ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Ter194= Single submitter ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
- p.Tyr66His Single submitter Inborn genetic diseases ⚠