SAE1 — 53 ClinVar variants
All ClinVar germline SAE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Benign · 7 Likely benign · 45 Uncertain significance
Full SAE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SAE1 p.Ala231Val Uncertain significance Single submitter
- SAE1 p.Arg35Trp Uncertain significance Single submitter
- SAE1 p.Arg38Gln Uncertain significance Single submitter
- SAE1 p.Arg83Cys Uncertain significance Single submitter
- SAE1 p.Arg89Gln Uncertain significance Single submitter
- SAE1 p.Arg91Gly Uncertain significance Single submitter
- SAE1 p.Arg98Gln Uncertain significance Single submitter
- SAE1 p.Asn168Ser Uncertain significance Single submitter
- SAE1 p.Asp111Gly Uncertain significance Single submitter
- SAE1 p.Asp127Asn Uncertain significance Single submitter
- SAE1 p.Asp193Asn Uncertain significance Single submitter
- SAE1 p.Asp193Gly Uncertain significance Single submitter
- SAE1 p.Asp332Asn Uncertain significance Single submitter
- SAE1 p.Gln144Arg Uncertain significance Single submitter
- SAE1 p.Glu116Val Uncertain significance Single submitter
- SAE1 p.Glu189Asp Uncertain significance Single submitter
- SAE1 p.Glu267Gln Uncertain significance Single submitter
- SAE1 p.Glu69Ala Uncertain significance Single submitter
- SAE1 p.Gly27Glu Uncertain significance Single submitter
- SAE1 p.Gly281Ser Uncertain significance Single submitter
- SAE1 p.Ile314Val Uncertain significance Single submitter
- SAE1 p.Ile56Ser Uncertain significance Single submitter
- SAE1 p.Leu242Val Uncertain significance Single submitter
- SAE1 p.Leu243Val Uncertain significance Single submitter
- SAE1 p.Lys117Glu Uncertain significance Single submitter
- SAE1 p.Lys335Arg Uncertain significance Single submitter
- SAE1 p.Met299Val Uncertain significance Single submitter
- SAE1 p.Thr112Pro Uncertain significance Single submitter
- SAE1 p.Thr124Ser Uncertain significance Single submitter
- SAE1 p.Thr84Asn Uncertain significance Single submitter
- SAE1 p.Val140Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SAE1 p.Ala128Gly Uncertain significance Single submitter
- SAE1 p.Arg235Cys Uncertain significance Single submitter
- SAE1 p.Gly43Ser Likely benign Single submitter
- SAE1 p.Gly77Arg Uncertain significance Single submitter
- SAE1 p.His162Arg Uncertain significance Single submitter
- SAE1 p.Ile11Val Uncertain significance Single submitter
- SAE1 p.Pro324Leu Uncertain significance Single submitter
- SAE1 p.Ser86Phe Uncertain significance Single submitter
- SAE1 p.Tyr240Cys Uncertain significance Single submitter
- SAE1 p.Val175Ala Uncertain significance Single submitter
All SAE1 variants
Benign 1
- p.Tyr262= Multiple submitters
Likely benign 7
- c.*27G>A Single submitter
- p.Glu227Asp Single submitter
- p.Gly333= Single submitter
- p.Gly43Ser Single submitter ⚠
- p.Leu318= Single submitter
- p.Phe296= Single submitter
- p.Pro323= Single submitter
Uncertain significance 45
- p.Ala128Gly Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Arg235Cys Single submitter ⚠
- p.Arg35Trp Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg89Gln Single submitter ⚠
- p.Arg91Gly Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asn168Ser Single submitter ⚠
- p.Asn327Ser Single submitter
- p.Asp111Gly Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp193Asn Single submitter ⚠
- p.Asp193Gly Single submitter ⚠
- p.Asp332Asn Single submitter ⚠
- p.Gln144Arg Single submitter ⚠
- p.Glu116Val Single submitter ⚠
- p.Glu189Asp Single submitter ⚠
- p.Glu267Gln Single submitter ⚠
- p.Glu69Ala Single submitter ⚠
- p.Gly27Glu Single submitter ⚠
- p.Gly281Ser Single submitter ⚠
- p.Gly333Ser Single submitter
- p.Gly77Arg Single submitter ⚠
- p.His162Arg Single submitter ⚠
- p.Ile11Val Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile56Ser Single submitter ⚠
- p.Leu242Val Single submitter ⚠
- p.Leu243Val Single submitter ⚠
- p.Lys117Glu Single submitter ⚠
- p.Lys180Glu Single submitter
- p.Lys335Arg Single submitter ⚠
- p.Met299Val Single submitter ⚠
- p.Phe296Cys Single submitter
- p.Pro324Leu Single submitter ⚠
- p.Ser86Phe Single submitter ⚠
- p.Thr112Pro Single submitter ⚠
- p.Thr124Ser Single submitter ⚠
- p.Thr64Ile Single submitter
- p.Thr84Asn Single submitter ⚠
- p.Tyr240Cys Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val175Ala Single submitter ⚠