EGLN3 — 16 ClinVar variants
All ClinVar germline EGLN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Benign · 1 Benign/Likely benign · 2 Likely benign · 12 Uncertain significance
Full EGLN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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.
- EGLN3 p.Arg65Cys Uncertain significance Single submitter
- EGLN3 p.Arg8Lys Uncertain significance Single submitter
- EGLN3 p.Asp99Asn Uncertain significance Single submitter
- EGLN3 p.Glu37Asp Uncertain significance Single submitter
- EGLN3 p.His196Gln Uncertain significance Single submitter
- EGLN3 p.Ile181Asn Uncertain significance Single submitter
- EGLN3 p.Ile181Val Uncertain significance Single submitter
- EGLN3 p.Lys48Glu Uncertain significance Single submitter
- EGLN3 p.Ser173Pro Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All EGLN3 variants
Benign 1
- p.Glu197= Multiple submitters
Benign/Likely benign 1
- p.Arg71Gln Multiple submitters
Uncertain significance 12
- p.Arg108Trp Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg8Lys Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Glu37Asp Single submitter ⚠
- p.Gly171Glu Single submitter
- p.His196Gln Single submitter ⚠
- p.Ile164Asn Single submitter ⚠
- p.Ile181Asn Single submitter ⚠
- p.Ile181Val Single submitter ⚠
- p.Lys48Glu Single submitter ⚠
- p.Ser173Pro Single submitter ⚠