EMC3 — 22 ClinVar variants
All ClinVar germline EMC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Likely benign · 21 Uncertain significance
Full EMC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC3 p.Ala212Thr Uncertain significance Single submitter
- EMC3 p.Arg180Trp Uncertain significance Single submitter
- EMC3 p.Arg57Gln Uncertain significance Single submitter
- EMC3 p.Arg93Trp Uncertain significance Single submitter
- EMC3 p.Asp41Asn Uncertain significance Single submitter
- EMC3 p.Gln39Glu Uncertain significance Single submitter
- EMC3 p.Ile20Thr Uncertain significance Single submitter
- EMC3 p.Pro211Leu Uncertain significance Single submitter
- EMC3 p.Ser10Ala Uncertain significance Single submitter
- EMC3 p.Thr75Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EMC3 p.Asn175Ser Uncertain significance Single submitter
- EMC3 p.Asp41His Uncertain significance Single submitter
- EMC3 p.Lys43Arg Uncertain significance Single submitter
- EMC3 p.Lys43Asn Uncertain significance Single submitter
- EMC3 p.Lys43Gln Uncertain significance Single submitter
- EMC3 p.Lys43Thr Uncertain significance Single submitter
- EMC3 p.Met208Thr Uncertain significance Single submitter
- EMC3 p.Met29Thr Uncertain significance Single submitter
- EMC3 p.Pro97Ser Uncertain significance Single submitter
All EMC3 variants
Likely benign 1
- p.Phe248= Single submitter
Uncertain significance 21
- c.-242+3401G>A Single submitter
- c.-242+3659C>G Single submitter
- p.Ala212Thr Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp41His Single submitter ⚠
- p.Gln39Glu Single submitter ⚠
- p.Ile20Thr Single submitter ⚠
- p.Lys43Arg Single submitter ⚠
- p.Lys43Asn Single submitter ⚠
- p.Lys43Gln Single submitter ⚠
- p.Lys43Thr Single submitter ⚠
- p.Met208Thr Single submitter ⚠
- p.Met29Thr Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser10Ala Single submitter ⚠
- p.Thr75Ala Single submitter ⚠