EFNA1 — 23 ClinVar variants
All ClinVar germline EFNA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 1 Likely benign · 21 Uncertain significance
Full EFNA1 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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNA1 p.Ala157Asp Uncertain significance Single submitter
- EFNA1 p.Ala62Thr Uncertain significance Single submitter
- EFNA1 p.Arg110Cys Uncertain significance Single submitter
- EFNA1 p.Asp159Glu Uncertain significance Single submitter
- EFNA1 p.Gln42Leu Uncertain significance Single submitter
- EFNA1 p.Gln66Lys Uncertain significance Single submitter
- EFNA1 p.His177Arg Uncertain significance Single submitter
- EFNA1 p.Ile179Met Uncertain significance Single submitter
- EFNA1 p.Ile49Val Uncertain significance Single submitter
- EFNA1 p.Leu166Phe Uncertain significance Single submitter
- EFNA1 p.Leu69Pro Uncertain significance Single submitter
- EFNA1 p.Pro95Ser Uncertain significance Single submitter
- EFNA1 p.Ser148Ile Uncertain significance Single submitter
- EFNA1 p.Tyr46Cys Uncertain significance Single submitter
- EFNA1 p.Val175Ala Uncertain significance Single submitter
- EFNA1 p.Val47Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EFNA1 variants
Benign 1
- p.Asp159Val Multiple submitters
Likely benign 1
- p.Arg94Gln Single submitter
Uncertain significance 21
- p.Ala157Asp Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Arg110Cys Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Gln42Leu Single submitter ⚠
- p.Gln66Lys Single submitter ⚠
- p.His177Arg Single submitter ⚠
- p.His99Gln Single submitter ⚠
- p.Ile179Met Single submitter ⚠
- p.Ile49Val Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Leu166Phe Single submitter ⚠
- p.Leu202Pro Single submitter ⚠
- p.Leu69Pro Single submitter ⚠
- p.Lys144Glu Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser148Ile Single submitter ⚠
- p.Trp192Arg Single submitter ⚠
- p.Tyr46Cys Single submitter ⚠
- p.Val175Ala Single submitter ⚠
- p.Val47Met Single submitter ⚠