ECH1 — 56 ClinVar variants
All ClinVar germline ECH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
6 Benign · 50 Uncertain significance
Full ECH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECH1 p.Lys95Arg Uncertain significance Multiple submitters
- ECH1 p.Ala237Val Uncertain significance Single submitter
- ECH1 p.Ala259Thr Uncertain significance Single submitter
- ECH1 p.Arg185Gln Uncertain significance Single submitter
- ECH1 p.Arg78Lys Uncertain significance Single submitter
- ECH1 p.Asp101Glu Uncertain significance Single submitter
- ECH1 p.Asp235Glu Uncertain significance Single submitter
- ECH1 p.Asp306Asn Uncertain significance Single submitter
- ECH1 p.Asp52Asn Uncertain significance Single submitter
- ECH1 p.Gln39Arg Uncertain significance Single submitter
- ECH1 p.Glu157Lys Uncertain significance Single submitter
- ECH1 p.Glu88Asp Uncertain significance Single submitter
- ECH1 p.Gly117Asp Uncertain significance Single submitter
- ECH1 p.Gly239Asp Uncertain significance Single submitter
- ECH1 p.Leu260Pro Uncertain significance Single submitter
- ECH1 p.Leu27Phe Uncertain significance Single submitter
- ECH1 p.Leu31Phe Uncertain significance Single submitter
- ECH1 p.Lys131Arg Uncertain significance Single submitter
- ECH1 p.Lys318Arg Uncertain significance Single submitter
- ECH1 p.Lys95Gln Uncertain significance Single submitter
- ECH1 p.Met233Leu Uncertain significance Single submitter
- ECH1 p.Phe193Ser Uncertain significance Single submitter
- ECH1 p.Thr115Ile Uncertain significance Single submitter
- ECH1 p.Thr20Arg Uncertain significance Single submitter
- ECH1 p.Val70Gly Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- ECH1 p.Ala226Thr Uncertain significance Single submitter
- ECH1 p.Ala3Thr Uncertain significance Single submitter
- ECH1 p.Ala50Thr Uncertain significance Single submitter
- ECH1 p.Arg137Trp Uncertain significance Single submitter
- ECH1 p.Arg143His Uncertain significance Single submitter
- ECH1 p.Arg211His Uncertain significance Single submitter
- ECH1 p.Arg230Cys Uncertain significance Single submitter
- ECH1 p.Arg230His Uncertain significance Single submitter
- ECH1 p.Asp101Gly Uncertain significance Single submitter
- ECH1 p.Asp284Asn Benign Single submitter
- ECH1 p.Gly217Arg Benign Single submitter
- ECH1 p.Gly26Glu Uncertain significance Single submitter
- ECH1 p.His69Arg Uncertain significance Single submitter
- ECH1 p.His69Gln Uncertain significance Single submitter
- ECH1 p.Ile145Phe Uncertain significance Single submitter
- ECH1 p.Lys327Asn Uncertain significance Single submitter
- ECH1 p.Met232Ile Uncertain significance Single submitter
- ECH1 p.Met81Val Uncertain significance Single submitter
- ECH1 p.Ser296Phe Uncertain significance Single submitter
- ECH1 p.Ser30Cys Uncertain significance Single submitter
- ECH1 p.Ser326Phe Uncertain significance Single submitter
- ECH1 p.Trp140Cys Uncertain significance Single submitter
- ECH1 p.Tyr281Asn Uncertain significance Single submitter
- ECH1 p.Val155Ile Uncertain significance Single submitter
- ECH1 p.Val215Phe Uncertain significance Single submitter
- ECH1 p.Val246Met Uncertain significance Single submitter
All ECH1 variants
Benign 6
- c.-2C>A Single submitter
- p.Asp284Asn Single submitter ⚠
- p.Glu41Ala Single submitter
- p.Gly217Arg Single submitter ⚠
- p.Ser125= Single submitter
- c.349+27C>G No assertion criteria
Uncertain significance 50
- p.Lys95Arg Multiple submitters ⚠
- p.Ala226Thr Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg211His Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg230His Single submitter ⚠
- p.Arg78Lys Single submitter ⚠
- p.Asp101Glu Single submitter ⚠
- p.Asp101Gly Single submitter ⚠
- p.Asp235Glu Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Asp52Asn Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu88Asp Single submitter ⚠
- p.Gly117Asp Single submitter ⚠
- p.Gly239Asp Single submitter ⚠
- p.Gly26Glu Single submitter ⚠
- p.His69Arg Single submitter ⚠
- p.His69Gln Single submitter ⚠
- p.Ile145Phe Single submitter ⚠
- p.Leu260Pro Single submitter ⚠
- p.Leu27Phe Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys318Arg Single submitter ⚠
- p.Lys327Asn Single submitter ⚠
- p.Lys95Gln Single submitter ⚠
- p.Met232Ile Single submitter ⚠
- p.Met233Leu Single submitter ⚠
- p.Met81Val Single submitter ⚠
- p.Phe193Ser Single submitter ⚠
- p.Ser296Phe Single submitter ⚠
- p.Ser30Cys Single submitter ⚠
- p.Ser326Phe Single submitter ⚠
- p.Thr115Ile Single submitter ⚠
- p.Thr20Arg Single submitter ⚠
- p.Trp140Cys Single submitter ⚠
- p.Tyr281Asn Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val215Phe Single submitter ⚠
- p.Val246Met Single submitter ⚠
- p.Val70Gly Single submitter ⚠
- c.349+9C>G No assertion criteria