EPC1 — 75 ClinVar variants
All ClinVar germline EPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
3 Likely benign · 72 Uncertain significance
Full EPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPC1 c.1863+114C>T Uncertain significance Single submitter
- EPC1 p.Ala770Thr Uncertain significance Single submitter
- EPC1 p.Arg238Gln Uncertain significance Single submitter
- EPC1 p.Arg336Trp Uncertain significance Single submitter
- EPC1 p.Arg461Cys Uncertain significance Single submitter
- EPC1 p.Arg461His Uncertain significance Single submitter
- EPC1 p.Arg57Trp Uncertain significance Single submitter
- EPC1 p.Asn184Lys Uncertain significance Single submitter
- EPC1 p.Asn499Ser Uncertain significance Single submitter
- EPC1 p.Asn730Ser Uncertain significance Single submitter
- EPC1 p.Asn802Thr Uncertain significance Single submitter
- EPC1 p.Asp513His Uncertain significance Single submitter
- EPC1 p.Asp786Ala Uncertain significance Single submitter
- EPC1 p.Cys135Phe Uncertain significance Single submitter
- EPC1 p.Glu140Val Uncertain significance Single submitter
- EPC1 p.Glu270Lys Uncertain significance Single submitter
- EPC1 p.Glu791Asp Uncertain significance Single submitter
- EPC1 p.Gly557Glu Uncertain significance Single submitter
- EPC1 p.His471Tyr Uncertain significance Single submitter
- EPC1 p.His753Arg Uncertain significance Single submitter
- EPC1 p.Ile301Val Uncertain significance Single submitter
- EPC1 p.Ile302Thr Uncertain significance Single submitter
- EPC1 p.Ile452Val Uncertain significance Single submitter
- EPC1 p.Ile728Thr Uncertain significance Single submitter
- EPC1 p.Ile89Val Uncertain significance Single submitter
- EPC1 p.Leu386Phe Uncertain significance Single submitter
- EPC1 p.Met218Val Uncertain significance Single submitter
- EPC1 p.Met485Ile Uncertain significance Single submitter
- EPC1 p.Met485Val Uncertain significance Single submitter
- EPC1 p.Met72Arg Uncertain significance Single submitter
- EPC1 p.Phe139Leu Uncertain significance Single submitter
- EPC1 p.Phe581Leu Uncertain significance Single submitter
- EPC1 p.Pro16Leu Uncertain significance Single submitter
- EPC1 p.Ser308Gly Uncertain significance Single submitter
- EPC1 p.Ser476Asn Uncertain significance Single submitter
- EPC1 p.Ser506Leu Uncertain significance Single submitter
- EPC1 p.Ser515Asn Uncertain significance Single submitter
- EPC1 p.Ser795Pro Uncertain significance Single submitter
- EPC1 p.Thr570Ser Uncertain significance Single submitter
- EPC1 p.Thr724Ser Uncertain significance Single submitter
- EPC1 p.Thr742Ser Uncertain significance Single submitter
- EPC1 p.Tyr115His Uncertain significance Single submitter
- EPC1 p.Tyr90His Uncertain significance Single submitter
- EPC1 p.Val656Met Uncertain significance Single submitter
- EPC1 p.Val664Ile Uncertain significance Single submitter
- EPC1 p.Val726Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- EPC1 p.Ala229Thr Uncertain significance Single submitter
- EPC1 p.Ala604Thr Uncertain significance Single submitter
- EPC1 p.Arg405His Uncertain significance Single submitter
- EPC1 p.Arg456Gln Uncertain significance Single submitter
- EPC1 p.Asn279Asp Uncertain significance Single submitter
- EPC1 p.Asp540Asn Uncertain significance Single submitter
- EPC1 p.Cys185Ser Uncertain significance Single submitter
- EPC1 p.Gln371His Uncertain significance Single submitter
- EPC1 p.Glu379Lys Uncertain significance Single submitter
- EPC1 p.Glu543Ala Uncertain significance Single submitter
- EPC1 p.Gly276Asp Uncertain significance Single submitter
- EPC1 p.Gly693Asp Uncertain significance Single submitter
- EPC1 p.Ile521Ser Uncertain significance Single submitter
- EPC1 p.Lys325Glu Uncertain significance Single submitter
- EPC1 p.Met283Thr Uncertain significance Single submitter
- EPC1 p.Phe402Leu Uncertain significance Single submitter
- EPC1 p.Phe478Cys Uncertain significance Single submitter
- EPC1 p.Pro303Ala Uncertain significance Single submitter
- EPC1 p.Pro381Arg Uncertain significance Single submitter
- EPC1 p.Pro531Leu Uncertain significance Single submitter
- EPC1 p.Ser567Arg Uncertain significance Single submitter
- EPC1 p.Thr296Ile Uncertain significance Single submitter
- EPC1 p.Thr680Ile Uncertain significance Single submitter
- EPC1 p.Thr687Arg Uncertain significance Single submitter
- EPC1 p.Trp423Arg Uncertain significance Single submitter
All EPC1 variants
Likely benign 3
- p.Arg272= Single submitter
- p.Asn279Ser Single submitter
- p.Met293Val Single submitter
Uncertain significance 72
- c.1863+114C>T Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala604Thr Single submitter ⚠
- p.Ala770Thr Single submitter ⚠
- p.Arg238Gln Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg405His Single submitter ⚠
- p.Arg456Gln Single submitter ⚠
- p.Arg461Cys Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg57Trp Single submitter ⚠
- p.Asn184Lys Single submitter ⚠
- p.Asn279Asp Single submitter ⚠
- p.Asn499Ser Single submitter ⚠
- p.Asn730Ser Single submitter ⚠
- p.Asn802Thr Single submitter ⚠
- p.Asp513His Single submitter ⚠
- p.Asp540Asn Single submitter ⚠
- p.Asp786Ala Single submitter ⚠
- p.Cys135Phe Single submitter ⚠
- p.Cys185Ser Single submitter ⚠
- p.Gln371His Single submitter ⚠
- p.Glu140Val Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu379Lys Single submitter ⚠
- p.Glu543Ala Single submitter ⚠
- p.Glu791Asp Single submitter ⚠
- p.Gly276Asp Single submitter ⚠
- p.Gly557Glu Single submitter ⚠
- p.Gly693Asp Single submitter ⚠
- p.His471Tyr Single submitter ⚠
- p.His753Arg Single submitter ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Ile452Val Single submitter ⚠
- p.Ile521Ser Single submitter ⚠
- p.Ile728Thr Single submitter ⚠
- p.Ile89Val Single submitter ⚠
- p.Leu386Phe Single submitter ⚠
- p.Lys325Glu Single submitter ⚠
- p.Met218Val Single submitter ⚠
- p.Met283Thr Single submitter ⚠
- p.Met485Ile Single submitter ⚠
- p.Met485Val Single submitter ⚠
- p.Met72Arg Single submitter ⚠
- p.Phe139Leu Single submitter ⚠
- p.Phe402Leu Single submitter ⚠
- p.Phe478Cys Single submitter ⚠
- p.Phe581Leu Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro303Ala Single submitter ⚠
- p.Pro381Arg Single submitter ⚠
- p.Pro531Leu Single submitter ⚠
- p.Ser308Gly Single submitter ⚠
- p.Ser476Asn Single submitter ⚠
- p.Ser506Leu Single submitter ⚠
- p.Ser515Asn Single submitter ⚠
- p.Ser567Arg Single submitter ⚠
- p.Ser569fs Single submitter
- p.Ser795Pro Single submitter ⚠
- p.Thr296Ile Single submitter ⚠
- p.Thr570Ser Single submitter ⚠
- p.Thr680Ile Single submitter ⚠
- p.Thr687Arg Single submitter ⚠
- p.Thr724Ser Single submitter ⚠
- p.Thr742Ser Single submitter ⚠
- p.Trp423Arg Single submitter ⚠
- p.Tyr115His Single submitter ⚠
- p.Tyr90His Single submitter ⚠
- p.Val656Met Single submitter ⚠
- p.Val664Ile Single submitter ⚠
- p.Val726Ile Single submitter ⚠