DIRAS3 — 25 ClinVar variants
All ClinVar germline DIRAS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
4 Likely benign · 21 Uncertain significance
Full DIRAS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIRAS3 p.Ala129Thr Uncertain significance Single submitter
- DIRAS3 p.Arg18Gln Uncertain significance Single submitter
- DIRAS3 p.Arg18Trp Uncertain significance Single submitter
- DIRAS3 p.Arg27Gly Uncertain significance Single submitter
- DIRAS3 p.Arg99Leu Uncertain significance Single submitter
- DIRAS3 p.Asn217Ser Uncertain significance Single submitter
- DIRAS3 p.Gln102Arg Uncertain significance Single submitter
- DIRAS3 p.Ile137Thr Uncertain significance Single submitter
- DIRAS3 p.Lys12Arg Uncertain significance Single submitter
- DIRAS3 p.Lys136Thr Uncertain significance Single submitter
- DIRAS3 p.Lys138Glu Uncertain significance Single submitter
- DIRAS3 p.Lys9Arg Uncertain significance Single submitter
- DIRAS3 p.Lys9Glu Uncertain significance Single submitter
- DIRAS3 p.Met171Ile Uncertain significance Single submitter
- DIRAS3 p.Met194Val Uncertain significance Single submitter
- DIRAS3 p.Tyr198Cys Uncertain significance Single submitter
- DIRAS3 p.Val48Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DIRAS3 variants
Likely benign 4
- p.Ala4Ser Single submitter
- p.Cys169Tyr Single submitter
- p.Pro31Ser Single submitter
- p.Thr69= No assertion criteria DIRAS3-related disorder
Uncertain significance 21
- p.Ala129Thr Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg27Gly Single submitter ⚠
- p.Arg99Leu Single submitter ⚠
- p.Asn174His Single submitter ⚠
- p.Asn217Ser Single submitter ⚠
- p.Gln102Arg Single submitter ⚠
- p.Ile137Thr Single submitter ⚠
- p.Lys12Arg Single submitter ⚠
- p.Lys136Thr Single submitter ⚠
- p.Lys138Glu Single submitter ⚠
- p.Lys183Glu Single submitter ⚠
- p.Lys9Arg Single submitter ⚠
- p.Lys9Glu Single submitter ⚠
- p.Met171Ile Single submitter ⚠
- p.Met194Val Single submitter ⚠
- p.Thr119Ser Single submitter ⚠
- p.Thr123Ala Single submitter ⚠
- p.Tyr198Cys Single submitter ⚠
- p.Val48Met Single submitter ⚠