DESI2 — 14 ClinVar variants
All ClinVar germline DESI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
14 Uncertain significance
Full DESI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DESI2 p.Ala153Ser Uncertain significance Single submitter
- DESI2 p.Arg126Cys Uncertain significance Single submitter
- DESI2 p.Arg126His Uncertain significance Single submitter
- DESI2 p.Asp172Asn Uncertain significance Single submitter
- DESI2 p.Gly185Val Uncertain significance Single submitter
- DESI2 p.His30Arg Uncertain significance Single submitter
- DESI2 p.Leu81Val Uncertain significance Single submitter
- DESI2 p.Ser56Cys Uncertain significance Single submitter
- DESI2 p.Thr151Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DESI2 variants
Uncertain significance 14
- p.Ala153Ser Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Asp172Asn Single submitter ⚠
- p.Glu123Asp Single submitter ⚠
- p.Gly185Val Single submitter ⚠
- p.His30Arg Single submitter ⚠
- p.Leu81Val Single submitter ⚠
- p.Ser158Gly Single submitter ⚠
- p.Ser56Cys Single submitter ⚠
- p.Thr151Met Single submitter ⚠