DDIT3 — 29 ClinVar variants
All ClinVar germline DDIT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Benign · 1 Likely benign · 26 Uncertain significance
Full DDIT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDIT3 p.Arg103Lys Uncertain significance Single submitter
- DDIT3 p.Arg105Gln Uncertain significance Single submitter
- DDIT3 p.Arg119His Uncertain significance Single submitter
- DDIT3 p.Arg140Gln Uncertain significance Single submitter
- DDIT3 p.Arg147His Uncertain significance Single submitter
- DDIT3 p.Arg150Gly Uncertain significance Single submitter
- DDIT3 p.Arg157Gln Uncertain significance Single submitter
- DDIT3 p.Asn44Ser Uncertain significance Single submitter
- DDIT3 p.Gln125Glu Uncertain significance Single submitter
- DDIT3 p.Glu126Asp Uncertain significance Single submitter
- DDIT3 p.Glu126Gln Uncertain significance Single submitter
- DDIT3 p.Glu137Asp Uncertain significance Single submitter
- DDIT3 p.Glu65Gly Uncertain significance Single submitter
- DDIT3 p.Gly116Ala Uncertain significance Single submitter
- DDIT3 p.Lys130Glu Uncertain significance Single submitter
- DDIT3 p.Phe10Ser Uncertain significance Single submitter
- DDIT3 p.Ser31Leu Uncertain significance Single submitter
- DDIT3 p.Ser79Asn Uncertain significance Single submitter
- DDIT3 p.Ser86Asn Uncertain significance Single submitter
- DDIT3 p.Ser88Thr Uncertain significance Single submitter
- DDIT3 p.Thr12Ile Uncertain significance Single submitter
- DDIT3 p.Val131Met Uncertain significance Single submitter
All DDIT3 variants
Benign 2
- c.-23T>C Multiple submitters
- c.-32-25C>G Multiple submitters
Likely benign 1
- p.Glu146Lys Multiple submitters
Uncertain significance 26
- c.-15G>A Single submitter
- c.-32-6C>G Single submitter
- c.*17G>A Single submitter
- p.Arg103Lys Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg150Gly Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Gln125Glu Single submitter ⚠
- p.Glu126Asp Single submitter ⚠
- p.Glu126Gln Single submitter ⚠
- p.Glu137Asp Single submitter ⚠
- p.Glu65Gly Single submitter ⚠
- p.Gly116Ala Single submitter ⚠
- p.Lys130Glu Single submitter ⚠
- p.Met1Leu Single submitter
- p.Phe10Ser Single submitter ⚠
- p.Ser31Leu Single submitter ⚠
- p.Ser79Asn Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Ser88Thr Single submitter ⚠
- p.Thr12Ile Single submitter ⚠
- p.Val131Met Single submitter ⚠