EDDM3A — 23 ClinVar variants
All ClinVar germline EDDM3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
2 Likely benign · 21 Uncertain significance
Full EDDM3A 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.
- EDDM3A p.Arg118Lys Uncertain significance Single submitter
- EDDM3A p.Asn26Ser Uncertain significance Single submitter
- EDDM3A p.Asp130Gly Uncertain significance Single submitter
- EDDM3A p.Cys127Trp Uncertain significance Single submitter
- EDDM3A p.Cys22Trp Uncertain significance Single submitter
- EDDM3A p.Cys22Tyr Uncertain significance Single submitter
- EDDM3A p.Cys80Tyr Uncertain significance Single submitter
- EDDM3A p.Ile10Val Uncertain significance Single submitter
- EDDM3A p.Ile69Val Uncertain significance Single submitter
- EDDM3A p.Leu11Ile Uncertain significance Single submitter
- EDDM3A p.Lys46Glu Uncertain significance Single submitter
- EDDM3A p.Met67Thr Uncertain significance Single submitter
- EDDM3A p.Ser117Asn Uncertain significance Single submitter
- EDDM3A p.Ser3Phe Uncertain significance Single submitter
- EDDM3A p.Ser86Asn Uncertain significance Single submitter
- EDDM3A p.Val133Ala Uncertain significance Single submitter
- EDDM3A p.Val52Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All EDDM3A variants
Likely benign 2
- p.Glu104Lys Single submitter
- p.Ile28Val Single submitter
Uncertain significance 21
- p.Arg118Lys Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asp130Gly Single submitter ⚠
- p.Cys127Trp Single submitter ⚠
- p.Cys22Trp Single submitter ⚠
- p.Cys22Tyr Single submitter ⚠
- p.Cys80Tyr Single submitter ⚠
- p.Ile10Val Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile69Val Single submitter ⚠
- p.Leu11Ile Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Met67Thr Single submitter ⚠
- p.Ser117Asn Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Trp30Cys Single submitter ⚠
- p.Val133Ala Single submitter ⚠
- p.Val52Leu Single submitter ⚠