DIRAS1 — 15 ClinVar variants
All ClinVar germline DIRAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
3 Likely benign · 12 Uncertain significance
Full DIRAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIRAS1 p.Ala145Ser Uncertain significance Single submitter
- DIRAS1 p.Arg181Gly Uncertain significance Single submitter
- DIRAS1 p.Arg190Gly Uncertain significance Single submitter
- DIRAS1 p.Asp113Asn Uncertain significance Single submitter
- DIRAS1 p.Asp178Glu Uncertain significance Single submitter
- DIRAS1 p.Glu41Lys Uncertain significance Single submitter
- DIRAS1 p.Gly79Val Uncertain significance Single submitter
- DIRAS1 p.Pro38Leu Uncertain significance Single submitter
- DIRAS1 p.Val11Met Uncertain significance Single submitter
- DIRAS1 p.Val88Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DIRAS1 variants
Likely benign 3
- p.His66= Single submitter
- p.Lys102Gln Single submitter
- p.Val191Ile Single submitter
Uncertain significance 12
- p.Ala145Ser Single submitter ⚠
- p.Arg181Gly Single submitter ⚠
- p.Arg190Gly Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Asp178Glu Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Gly109Ala Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val88Ile Single submitter ⚠