EFCC1 — 115 ClinVar variants
All ClinVar germline EFCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
6 Likely benign · 109 Uncertain significance
Full EFCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCC1 p.Arg510Gln Uncertain significance Multiple submitters
- EFCC1 p.Ala135Thr Uncertain significance Single submitter
- EFCC1 p.Ala15Ser Uncertain significance Single submitter
- EFCC1 p.Ala15Thr Uncertain significance Single submitter
- EFCC1 p.Ala266Val Uncertain significance Single submitter
- EFCC1 p.Ala271Ser Uncertain significance Single submitter
- EFCC1 p.Ala413Val Uncertain significance Single submitter
- EFCC1 p.Ala462Ser Uncertain significance Single submitter
- EFCC1 p.Ala485Glu Uncertain significance Single submitter
- EFCC1 p.Ala485Thr Uncertain significance Single submitter
- EFCC1 p.Ala566Thr Uncertain significance Single submitter
- EFCC1 p.Ala588Val Uncertain significance Single submitter
- EFCC1 p.Ala590Val Uncertain significance Single submitter
- EFCC1 p.Ala8Val Uncertain significance Single submitter
- EFCC1 p.Ala90Thr Uncertain significance Single submitter
- EFCC1 p.Arg106Ser Uncertain significance Single submitter
- EFCC1 p.Arg134Cys Uncertain significance Single submitter
- EFCC1 p.Arg134Pro Uncertain significance Single submitter
- EFCC1 p.Arg180His Uncertain significance Single submitter
- EFCC1 p.Arg21Gly Uncertain significance Single submitter
- EFCC1 p.Arg273Leu Uncertain significance Single submitter
- EFCC1 p.Arg275His Uncertain significance Single submitter
- EFCC1 p.Arg275Ser Uncertain significance Single submitter
- EFCC1 p.Arg387Cys Uncertain significance Single submitter
- EFCC1 p.Arg422Trp Uncertain significance Single submitter
- EFCC1 p.Arg508Lys Uncertain significance Single submitter
- EFCC1 p.Arg76His Uncertain significance Single submitter
- EFCC1 p.Arg80Gln Uncertain significance Single submitter
- EFCC1 p.Arg89Leu Uncertain significance Single submitter
- EFCC1 p.Asp330Asn Uncertain significance Single submitter
- EFCC1 p.Asp352Asn Uncertain significance Single submitter
- EFCC1 p.Asp352His Uncertain significance Single submitter
- EFCC1 p.Asp378Asn Uncertain significance Single submitter
- EFCC1 p.Asp396Glu Uncertain significance Single submitter
- EFCC1 p.Asp530Asn Uncertain significance Single submitter
- EFCC1 p.Asp551Val Uncertain significance Single submitter
- EFCC1 p.Cys460Tyr Uncertain significance Single submitter
- EFCC1 p.Gln526Arg Uncertain significance Single submitter
- EFCC1 p.Glu2Lys Uncertain significance Single submitter
- EFCC1 p.Glu303Ala Uncertain significance Single submitter
- EFCC1 p.Glu402Val Uncertain significance Single submitter
- EFCC1 p.Glu403Lys Uncertain significance Single submitter
- EFCC1 p.Glu415Lys Uncertain significance Single submitter
- EFCC1 p.Glu492Lys Uncertain significance Single submitter
- EFCC1 p.Glu505Lys Uncertain significance Single submitter
- EFCC1 p.Glu9Ala Uncertain significance Single submitter
- EFCC1 p.Gly14Val Uncertain significance Single submitter
- EFCC1 p.Gly373Glu Uncertain significance Single submitter
- EFCC1 p.Gly446Ser Uncertain significance Single submitter
- EFCC1 p.Gly474Ala Uncertain significance Single submitter
- EFCC1 p.Gly539Glu Uncertain significance Single submitter
- EFCC1 p.His247Leu Uncertain significance Single submitter
- EFCC1 p.His297Arg Uncertain significance Single submitter
- EFCC1 p.His496Tyr Uncertain significance Single submitter
- EFCC1 p.Ile461Thr Uncertain significance Single submitter
- EFCC1 p.Leu257Val Uncertain significance Single submitter
- EFCC1 p.Leu30Arg Uncertain significance Single submitter
- EFCC1 p.Leu514Val Uncertain significance Single submitter
- EFCC1 p.Leu538Gln Uncertain significance Single submitter
- EFCC1 p.Leu576Val Uncertain significance Single submitter
- EFCC1 p.Leu74Val Uncertain significance Single submitter
- EFCC1 p.Lys409Asn Uncertain significance Single submitter
- EFCC1 p.Lys410Thr Uncertain significance Single submitter
- EFCC1 p.Met439Ile Uncertain significance Single submitter
- EFCC1 p.Phe145Tyr Uncertain significance Single submitter
- EFCC1 p.Pro138Arg Uncertain significance Single submitter
- EFCC1 p.Pro185Gln Uncertain significance Single submitter
- EFCC1 p.Pro195Arg Uncertain significance Single submitter
- EFCC1 p.Pro343Thr Uncertain significance Single submitter
- EFCC1 p.Pro350Leu Uncertain significance Single submitter
- EFCC1 p.Pro3Ala Uncertain significance Single submitter
- EFCC1 p.Thr119Met Uncertain significance Single submitter
- EFCC1 p.Thr141Pro Uncertain significance Single submitter
- EFCC1 p.Thr335Ile Uncertain significance Single submitter
- EFCC1 p.Thr355Ile Uncertain significance Single submitter
- EFCC1 p.Thr411Pro Uncertain significance Single submitter
- EFCC1 p.Thr434Met Uncertain significance Single submitter
- EFCC1 p.Thr470Ile Uncertain significance Single submitter
- EFCC1 p.Thr477Asn Uncertain significance Single submitter
- EFCC1 p.Thr94Ser Uncertain significance Single submitter
- EFCC1 p.Tyr326Cys Uncertain significance Single submitter
- EFCC1 p.Val200Phe Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- EFCC1 p.Ala219Val Uncertain significance Single submitter
- EFCC1 p.Ala271Pro Uncertain significance Single submitter
- EFCC1 p.Ala33Val Uncertain significance Single submitter
- EFCC1 p.Arg25Gln Uncertain significance Single submitter
- EFCC1 p.Arg387Gly Uncertain significance Single submitter
- EFCC1 p.Asp18His Uncertain significance Single submitter
- EFCC1 p.Asp78Asn Uncertain significance Single submitter
- EFCC1 p.Gln259Pro Uncertain significance Single submitter
- EFCC1 p.Gln313His Uncertain significance Single submitter
- EFCC1 p.Glu128Lys Uncertain significance Single submitter
- EFCC1 p.Glu171Lys Uncertain significance Single submitter
- EFCC1 p.Glu303Gly Uncertain significance Single submitter
- EFCC1 p.Glu303Val Uncertain significance Single submitter
- EFCC1 p.His146Gln Uncertain significance Single submitter
- EFCC1 p.His64Arg Uncertain significance Single submitter
- EFCC1 p.Ile174Thr Uncertain significance Single submitter
- EFCC1 p.Leu34Val Uncertain significance Single submitter
- EFCC1 p.Leu497Arg Uncertain significance Single submitter
- EFCC1 p.Phe386Leu Uncertain significance Single submitter
- EFCC1 p.Pro162His Uncertain significance Single submitter
- EFCC1 p.Ser209Arg Uncertain significance Single submitter
- EFCC1 p.Ser224Asn Uncertain significance Single submitter
- EFCC1 p.Val299Glu Uncertain significance Single submitter
- EFCC1 p.Val521Met Uncertain significance Single submitter
All EFCC1 variants
Likely benign 6
- p.Ala188Val Single submitter
- p.Ala413= Single submitter
- p.Arg318= Single submitter
- p.Cys187Arg Single submitter
- p.Gln307Arg Single submitter
- p.Gly447Ser Single submitter
Uncertain significance 109
- p.Arg510Gln Multiple submitters ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala15Ser Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala271Pro Single submitter ⚠
- p.Ala271Ser Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Ala462Ser Single submitter ⚠
- p.Ala485Glu Single submitter ⚠
- p.Ala485Thr Single submitter ⚠
- p.Ala566Thr Single submitter ⚠
- p.Ala588Val Single submitter ⚠
- p.Ala590Val Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg106Ser Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg134Pro Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg21Gly Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg273Leu Single submitter ⚠
- p.Arg275His Single submitter ⚠
- p.Arg275Ser Single submitter ⚠
- p.Arg387Cys Single submitter ⚠
- p.Arg387Gly Single submitter ⚠
- p.Arg422Trp Single submitter ⚠
- p.Arg508Lys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg89Leu Single submitter ⚠
- p.Asp18His Single submitter ⚠
- p.Asp330Asn Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp352His Single submitter ⚠
- p.Asp378Asn Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Asp530Asn Single submitter ⚠
- p.Asp551Val Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Cys460Tyr Single submitter ⚠
- p.Gln259Pro Single submitter ⚠
- p.Gln313His Single submitter ⚠
- p.Gln526Arg Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.Glu303Ala Single submitter ⚠
- p.Glu303Gly Single submitter ⚠
- p.Glu303Val Single submitter ⚠
- p.Glu402Val Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu415Lys Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Glu505Lys Single submitter ⚠
- p.Glu515Lys Single submitter
- p.Glu9Ala Single submitter ⚠
- p.Gly14Val Single submitter ⚠
- p.Gly373Glu Single submitter ⚠
- p.Gly446Ser Single submitter ⚠
- p.Gly474Ala Single submitter ⚠
- p.Gly539Glu Single submitter ⚠
- p.His146Gln Single submitter ⚠
- p.His247Leu Single submitter ⚠
- p.His297Arg Single submitter ⚠
- p.His496Tyr Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile461Thr Single submitter ⚠
- p.Leu257Val Single submitter ⚠
- p.Leu30Arg Single submitter ⚠
- p.Leu34Val Single submitter ⚠
- p.Leu497Arg Single submitter ⚠
- p.Leu514Val Single submitter ⚠
- p.Leu538Gln Single submitter ⚠
- p.Leu543Gln Single submitter
- p.Leu576Val Single submitter ⚠
- p.Leu74Val Single submitter ⚠
- p.Lys409Asn Single submitter ⚠
- p.Lys410Thr Single submitter ⚠
- p.Met439Ile Single submitter ⚠
- p.Phe145Tyr Single submitter ⚠
- p.Phe386Leu Single submitter ⚠
- p.Pro138Arg Single submitter ⚠
- p.Pro162His Single submitter ⚠
- p.Pro185Gln Single submitter ⚠
- p.Pro195Arg Single submitter ⚠
- p.Pro19Leu Single submitter
- p.Pro343Thr Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro3Ala Single submitter ⚠
- p.Ser209Arg Single submitter ⚠
- p.Ser224Asn Single submitter ⚠
- p.Thr119Met Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr335Ile Single submitter ⚠
- p.Thr355Ile Single submitter ⚠
- p.Thr411Pro Single submitter ⚠
- p.Thr434Met Single submitter ⚠
- p.Thr470Ile Single submitter ⚠
- p.Thr477Asn Single submitter ⚠
- p.Thr94Ser Single submitter ⚠
- p.Tyr326Cys Single submitter ⚠
- p.Val200Phe Single submitter ⚠
- p.Val299Glu Single submitter ⚠
- p.Val521Met Single submitter ⚠