EMC4 — 11 ClinVar variants
All ClinVar germline EMC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Likely benign · 10 Uncertain significance
Full EMC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC4 p.Ala3Val Uncertain significance Single submitter
- EMC4 p.Arg68His Uncertain significance Single submitter
- EMC4 p.Gly35Asp Uncertain significance Single submitter
- EMC4 p.Ile116Phe Uncertain significance Single submitter
- EMC4 p.Phe85Leu Uncertain significance Single submitter
- EMC4 p.Ser162Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EMC4 variants
Likely benign 1
- p.Ser36Gly Single submitter
Uncertain significance 10
- p.Ala3Val Single submitter ⚠
- p.Arg108Ter Single submitter
- p.Arg68His Single submitter ⚠
- p.Gly35Asp Single submitter ⚠
- p.Ile116Phe Single submitter ⚠
- p.Ile19Thr Single submitter ⚠
- p.Lys129Asn Single submitter ⚠
- p.Phe85Leu Single submitter ⚠
- p.Pro171His Single submitter ⚠
- p.Ser162Leu Single submitter ⚠