EDC3 — 63 ClinVar variants
All ClinVar germline EDC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Pathogenic · 2 Conflicting · 1 Benign · 13 Likely benign · 45 Uncertain significance
Full EDC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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EDC3 p.Arg260Trp
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 50
- EDC3 p.Ala129Thr Uncertain significance Single submitter
- EDC3 p.Ala172Pro Uncertain significance Single submitter
- EDC3 p.Ala312Thr Uncertain significance Single submitter
- EDC3 p.Arg232His Uncertain significance Single submitter
- EDC3 p.Arg243Gln Uncertain significance Single submitter
- EDC3 p.Asn170Thr Uncertain significance Single submitter
- EDC3 p.Asp398Val Uncertain significance Single submitter
- EDC3 p.Asp78Asn Uncertain significance Single submitter
- EDC3 p.Asp78Val Uncertain significance Single submitter
- EDC3 p.Gln451Leu Uncertain significance Single submitter
- EDC3 p.Gln74His Uncertain significance Single submitter
- EDC3 p.Gly347Glu Uncertain significance Single submitter
- EDC3 p.Gly354Val Uncertain significance Single submitter
- EDC3 p.Gly390Ala Uncertain significance Single submitter
- EDC3 p.Gly77Glu Uncertain significance Single submitter
- EDC3 p.His287Gln Uncertain significance Single submitter
- EDC3 p.His494Arg Uncertain significance Single submitter
- EDC3 p.His75Arg Uncertain significance Single submitter
- EDC3 p.Leu340Pro Uncertain significance Single submitter
- EDC3 p.Leu84Val Uncertain significance Single submitter
- EDC3 p.Lys288Arg Uncertain significance Single submitter
- EDC3 p.Lys329Arg Uncertain significance Single submitter
- EDC3 p.Lys387Gln Uncertain significance Single submitter
- EDC3 p.Met146Val Uncertain significance Single submitter
- EDC3 p.Pro132Ser Uncertain significance Single submitter
- EDC3 p.Thr242Ser Uncertain significance Single submitter
- EDC3 p.Thr273Met Uncertain significance Single submitter
- EDC3 p.Thr318Asn Uncertain significance Single submitter
- EDC3 p.Thr401Ser Uncertain significance Single submitter
- EDC3 p.Tyr258Cys Uncertain significance Single submitter
- EDC3 p.Val278Ile Uncertain significance Single submitter
- EDC3 p.Val278Phe Uncertain significance Single submitter
- EDC3 p.Val331Leu Uncertain significance Single submitter
- EDC3 p.Val449Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EDC3 p.Arg420Cys Uncertain significance Single submitter
- EDC3 p.Asp478Asn Uncertain significance Single submitter
- EDC3 p.Leu368Met Conflicting Single submitter
- EDC3 p.Leu467Arg Uncertain significance Single submitter
- EDC3 p.Ser233Tyr Uncertain significance Single submitter
- EDC3 p.Ser395Asn Uncertain significance Single submitter
- EDC3 p.Val25Leu Uncertain significance Single submitter
- EDC3 p.Val279Ile Uncertain significance Single submitter
- EDC3 p.Val293Met Uncertain significance Single submitter
All EDC3 variants
Pathogenic 2
- p.Gln171fs Single submitter intellectual disability, autosomal recessive 50
- p.Phe54Ser No assertion criteria intellectual disability, autosomal recessive 50
Conflicting classifications of pathogenicity 2
- p.Leu368Met Single submitter ⚠
- p.Leu37Val Single submitter ⚠
Benign 1
- p.Thr273= Multiple submitters
Likely benign 13
- p.Ala211= Single submitter
- p.Cys477= Single submitter
- p.Gly94= Single submitter
- p.His470= Single submitter
- p.Leu317= Single submitter
- p.Leu37= Single submitter
- p.Leu459= Single submitter
- p.Phe192= Single submitter
- p.Pro86Thr Single submitter
- p.Ser507= Single submitter
- p.Leu463= No assertion criteria EDC3-related disorder
- p.Ser166= No assertion criteria EDC3-related disorder
- p.Thr60= No assertion criteria EDC3-related disorder
Uncertain significance 45
- p.Arg260Trp Multiple submitters intellectual disability, autosomal recessive 50 ⚠
- c.821-2A>C Single submitter
- c.*1251_*1674del Single submitter
- p.Ala129Thr Single submitter ⚠
- p.Ala172Pro Single submitter ⚠
- p.Ala312Thr Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg243Gln Single submitter ⚠
- p.Arg420Cys Single submitter ⚠
- p.Asn170Thr Single submitter ⚠
- p.Asp398Val Single submitter ⚠
- p.Asp478Asn Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Asp78Val Single submitter ⚠
- p.Gln451Leu Single submitter ⚠
- p.Gln74His Single submitter ⚠
- p.Gly347Glu Single submitter ⚠
- p.Gly354Val Single submitter ⚠
- p.Gly390Ala Single submitter ⚠
- p.Gly77Glu Single submitter ⚠
- p.His287Gln Single submitter ⚠
- p.His494Arg Single submitter ⚠
- p.His75Arg Single submitter ⚠
- p.Leu340Pro Single submitter ⚠
- p.Leu467Arg Single submitter ⚠
- p.Leu84Val Single submitter ⚠
- p.Lys288Arg Single submitter ⚠
- p.Lys329Arg Single submitter ⚠
- p.Lys387Gln Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Ser233Tyr Single submitter ⚠
- p.Ser395Asn Single submitter ⚠
- p.Thr242Ser Single submitter ⚠
- p.Thr273Met Single submitter ⚠
- p.Thr318Asn Single submitter ⚠
- p.Thr401Ser Single submitter ⚠
- p.Tyr258Cys Single submitter ⚠
- p.Val25Leu Single submitter ⚠
- p.Val278Ile Single submitter ⚠
- p.Val278Phe Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Val293Met Single submitter ⚠
- p.Val331Leu Single submitter ⚠
- p.Val449Gly Single submitter ⚠