ERCC1 — 172 ClinVar variants
All ClinVar germline ERCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
7 Pathogenic · 8 Likely pathogenic · 2 Conflicting · 33 Benign · 6 Benign/Likely benign · 75 Likely benign · 41 Uncertain significance
Full ERCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ERCC1 p.Ala64Val
Conflicting
Single submitter
cerebrooculofacioskeletal syndrome 4
-
ERCC1 p.Arg156Trp
Conflicting
Single submitter
Failure to thrive
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERCC1 p.Ala265Thr Uncertain significance Multiple submitters
-
ERCC1 p.Arg156Gln
Uncertain significance
Multiple submitters
cerebrooculofacioskeletal syndrome 4
-
ERCC1 p.Asn110Ser
Uncertain significance
Multiple submitters
cerebrooculofacioskeletal syndrome 4
- ERCC1 p.Gly85Arg Uncertain significance Multiple submitters
- ERCC1 p.Thr75Ser Uncertain significance Multiple submitters
- ERCC1 p.Ala266Pro Uncertain significance Single submitter
- ERCC1 p.Ala61Thr Uncertain significance Single submitter
- ERCC1 p.Asn89Ser Uncertain significance Single submitter
- ERCC1 p.Asp129Tyr Uncertain significance Single submitter
- ERCC1 p.Asp193Asn Uncertain significance Single submitter
- ERCC1 p.Asp50Val Uncertain significance Single submitter
- ERCC1 p.Leu148Val Uncertain significance Single submitter
- ERCC1 p.Leu253Arg Uncertain significance Single submitter
- ERCC1 p.Lys213Asn Uncertain significance Single submitter
- ERCC1 p.Pro11Ala Uncertain significance Single submitter
- ERCC1 p.Ser42Pro Uncertain significance Single submitter
-
ERCC1 p.Ser42Thr
Uncertain significance
Single submitter
cerebrooculofacioskeletal syndrome 4
- ERCC1 p.Thr248Met Uncertain significance Single submitter
- ERCC1 p.Val119Met Uncertain significance Single submitter
- ERCC1 p.Val168Phe Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ERCC1 p.Arg207Trp Uncertain significance Multiple submitters
-
ERCC1 p.Ser267Pro
Uncertain significance
Multiple submitters
cerebrooculofacioskeletal syndrome 4
- ERCC1 p.Val116Met Uncertain significance Multiple submitters
- ERCC1 p.Arg106Gln Uncertain significance Single submitter
- ERCC1 p.Arg117His Uncertain significance Single submitter
- ERCC1 p.Arg167Gln Uncertain significance Single submitter
- ERCC1 p.Gln229Glu Uncertain significance Single submitter
- ERCC1 p.Gln58Glu Uncertain significance Single submitter
- ERCC1 p.Gly161Glu Uncertain significance Single submitter
- ERCC1 p.Gly95Arg Uncertain significance Single submitter
- ERCC1 p.Ile101Val Uncertain significance Single submitter
- ERCC1 p.Ser52Leu Uncertain significance Single submitter
- ERCC1 p.Thr241Asn Uncertain significance Single submitter
- ERCC1 p.Thr48Asn Uncertain significance Single submitter
- ERCC1 p.Thr87Met Uncertain significance Single submitter
- ERCC1 p.Val168Ile Uncertain significance Single submitter
- ERCC1 p.Val175Leu Uncertain significance Single submitter
-
ERCC1 p.Phe231Leu
Pathogenic
No assertion criteria
cerebrooculofacioskeletal syndrome 4
All ERCC1 variants
Pathogenic 7
- p.Arg41Ter Multiple submitters cerebrooculofacioskeletal syndrome 4
- c.525+2T>C Single submitter
- p.Glu70Ter Single submitter
- p.Lys37Ter Single submitter
- c.321+61_525+132del No assertion criteria Global proximal tubulopathy
- p.Gln158Ter No assertion criteria cerebrooculofacioskeletal syndrome 4
- p.Phe231Leu No assertion criteria cerebrooculofacioskeletal syndrome 4 ⚠
Likely pathogenic 8
- c.525+1G>A Single submitter
- c.526-1G>A Single submitter
- c.703-2A>G Single submitter
- p.Gln67Ter Single submitter
- p.Glu62Ter Single submitter cerebrooculofacioskeletal syndrome 4
- p.Ser52Ter Single submitter
- p.Thr78fs Single submitter cerebrooculofacioskeletal syndrome 4
- p.Val10fs Single submitter cerebrooculofacioskeletal syndrome 4
Conflicting classifications of pathogenicity 2
- p.Ala64Val Single submitter cerebrooculofacioskeletal syndrome 4 ⚠
- p.Arg156Trp Single submitter Failure to thrive ⚠
Benign 33
- c.321+74C>G Multiple submitters
- c.425+86A>G Multiple submitters
- c.525+33C>A Multiple submitters
- c.526-109C>T Multiple submitters
- c.602+124C>G Multiple submitters
- c.844-103G>C Multiple submitters
- c.844-110A>G Multiple submitters
- c.844-173A>T Multiple submitters
- c.-7-136A>G Multiple submitters
- c.-8+123G>T Multiple submitters
- c.*590T>C Multiple submitters
- p.Asn118= Multiple submitters
- c.106-3C>T Single submitter
- c.322-274G>T Single submitter
- c.425+35G>C Single submitter
- c.426-6del Single submitter
- c.426-6dup Single submitter
- c.525+256TTTG[7] Single submitter
- c.602+182_602+183del Single submitter
- c.602+183del Single submitter
- c.603-318A>C Single submitter
- c.843+348A>G Single submitter
- c.844-168_844-167insAAAAAAAA Single submitter
- c.844-170TAA[4] Single submitter
- c.844-172_844-171insATAAT Single submitter
- c.844-173_844-172insT Single submitter
- c.844-173_844-172insTAAT Single submitter
- c.844-174_844-173insT Single submitter
- c.844-176_844-175insTAAT Single submitter
- c.-105C>T Single submitter
- c.-127T>C Single submitter
- c.-7-71dup Single submitter
- p.His154= Single submitter
Benign/Likely benign 6
- c.843+32G>A Multiple submitters cerebrooculofacioskeletal syndrome 4
- c.843+6A>G Multiple submitters
- p.Asp125= Multiple submitters
- p.Ile264= Multiple submitters
- p.Thr75= Multiple submitters
- p.Tyr130= Multiple submitters
Likely benign 75
- c.105+257C>T Multiple submitters
- c.106-41C>T Multiple submitters
- c.603-170A>G Multiple submitters
- c.603-27C>T Multiple submitters
- c.843+117C>T Multiple submitters
- c.844-176A>T Multiple submitters
- c.844-179A>T Multiple submitters
- c.*183C>T Multiple submitters
- p.Ala61= Multiple submitters
- p.Ile102= Multiple submitters
- p.Leu198= Multiple submitters
- p.Phe115= Multiple submitters
- p.Pro128= Multiple submitters
- c.105+7_105+8del Single submitter
- c.106-14C>T Single submitter
- c.106-82_106-79del Single submitter
- c.321+14C>T Single submitter
- c.322-13C>T Single submitter
- c.426-10C>T Single submitter
- c.426-168C>G Single submitter
- c.426-18G>A Single submitter
- c.426-19C>T Single submitter
- c.426-6C>T Single submitter
- c.426-7C>T Single submitter
- c.426-98C>T Single submitter
- c.426-9C>T Single submitter
- c.525+14G>T Single submitter
- c.525+9G>A Single submitter
- c.602+18C>T Single submitter
- c.602+276C>G Single submitter
- c.603-10G>C Single submitter
- c.603-26G>T Single submitter
- c.603-6T>C Single submitter
- c.702+20C>T Single submitter
- c.703-12C>T Single submitter
- c.703-292T>G Single submitter
- c.775-14C>A Single submitter
- c.775-14C>T Single submitter
- c.775-15G>A Single submitter
- c.775-16C>T Single submitter
- c.775-20C>T Single submitter
- c.775-8C>T Single submitter
- c.843+105C>G Single submitter
- c.843+48C>A Single submitter
- c.843+75A>G Single submitter
- c.844-170TAA[5] Single submitter
- c.844-173_844-172insTAATAAT Single submitter
- c.844-267G>A Single submitter
- c.-8+138G>A Single submitter
- c.*84del Single submitter
- p.Ala192= Single submitter
- p.Ala199= Single submitter
- p.Ala265= Single submitter
- p.Ala266= Single submitter
- p.Ala64= Single submitter
- p.Cys137= Single submitter
- p.Gln251= Single submitter
- p.Gly124= Single submitter
- p.Gly71= Single submitter
- p.Gly9= Single submitter
- p.His290= Single submitter
- p.Leu69= Single submitter
- p.Lys183= Single submitter
- p.Lys281= Single submitter
- p.Lys5= Single submitter
- p.Pro202= Single submitter
- p.Pro38= Single submitter
- p.Pro68= Single submitter
- p.Ser142= Single submitter
- p.Ser159Asn Single submitter
- p.Thr241= Single submitter
- c.844-9C>T No assertion criteria ERCC1-related disorder
- c.*9G>C No assertion criteria ERCC1-related disorder
- p.Pro111= No assertion criteria ERCC1-related disorder
- p.Val288= No assertion criteria ERCC1-related disorder
Uncertain significance 41
- c.843+52A>G Multiple submitters
- p.Ala265Thr Multiple submitters ⚠
- p.Arg156Gln Multiple submitters cerebrooculofacioskeletal syndrome 4 ⚠
- p.Arg207Trp Multiple submitters ⚠
- p.Asn110Ser Multiple submitters cerebrooculofacioskeletal syndrome 4 ⚠
- p.Gly85Arg Multiple submitters ⚠
- p.Ser267Pro Multiple submitters cerebrooculofacioskeletal syndrome 4 ⚠
- p.Thr75Ser Multiple submitters ⚠
- p.Val116Met Multiple submitters ⚠
- c.843+121C>T Single submitter
- c.843+32G>C Single submitter cerebrooculofacioskeletal syndrome 4
- c.-8+1G>C Single submitter
- p.Ala266Pro Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp129Tyr Single submitter ⚠
- p.Asp193Asn Single submitter ⚠
- p.Asp50Val Single submitter ⚠
- p.Gln229Glu Single submitter ⚠
- p.Gln58Glu Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly95Arg Single submitter ⚠
- p.Ile101Val Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu253Arg Single submitter ⚠
- p.Lys213Asn Single submitter ⚠
- p.Pro11Ala Single submitter ⚠
- p.Ser42Pro Single submitter ⚠
- p.Ser42Thr Single submitter cerebrooculofacioskeletal syndrome 4 ⚠
- p.Ser52Leu Single submitter ⚠
- p.Thr241Asn Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr48Asn Single submitter ⚠
- p.Thr87Met Single submitter ⚠
- p.Val119Met Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val168Phe Single submitter ⚠
- p.Val175Leu Single submitter ⚠