ESM1 — 20 ClinVar variants
All ClinVar germline ESM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Benign · 4 Likely benign · 15 Uncertain significance
Full ESM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESM1 p.Arg184Cys Uncertain significance Single submitter
- ESM1 p.Arg184His Uncertain significance Single submitter
- ESM1 p.Asp158Asn Uncertain significance Single submitter
- ESM1 p.Cys32Gly Uncertain significance Single submitter
- ESM1 p.Ile121Val Uncertain significance Single submitter
- ESM1 p.Leu149Val Uncertain significance Single submitter
- ESM1 p.Lys38Glu Uncertain significance Single submitter
- ESM1 p.Phe134Val Uncertain significance Single submitter
- ESM1 p.Ser148Thr Uncertain significance Single submitter
- ESM1 p.Thr114Ile Uncertain significance Single submitter
- ESM1 p.Val47Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ESM1 variants
Benign 1
- p.Thr150= Multiple submitters
Likely benign 4
- p.Arg112Lys Single submitter
- p.Gly173Arg Single submitter
- p.Ser35Asn Single submitter ⚠
- p.Thr8Ala Single submitter
Uncertain significance 15
- p.Arg124Gly Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp158Tyr Single submitter ⚠
- p.Cys32Gly Single submitter ⚠
- p.Gly120Asp Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Leu149Val Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Phe134Val Single submitter ⚠
- p.Ser148Thr Single submitter ⚠
- p.Thr114Ile Single submitter ⚠
- p.Val17Glu Single submitter ⚠
- p.Val47Ala Single submitter ⚠