CYP1A1 — 79 ClinVar variants
All ClinVar germline CYP1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
9 Benign · 1 Benign/Likely benign · 13 Likely benign · 56 Uncertain significance
Full CYP1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP1A1 p.Arg358Gln Uncertain significance Single submitter
- CYP1A1 p.Asn222Ser Uncertain significance Single submitter
- CYP1A1 p.Asp235Ala Uncertain significance Single submitter
- CYP1A1 p.Cys406Tyr Uncertain significance Single submitter
- CYP1A1 p.Gln293Glu Uncertain significance Single submitter
- CYP1A1 p.Gly225Arg Uncertain significance Single submitter
- CYP1A1 p.Gly225Glu Uncertain significance Single submitter
- CYP1A1 p.Gly453Arg Uncertain significance Single submitter
- CYP1A1 p.Gly79Val Uncertain significance Single submitter
- CYP1A1 p.His183Arg Uncertain significance Single submitter
- CYP1A1 p.His388Tyr Uncertain significance Single submitter
- CYP1A1 p.Ile115Met Uncertain significance Single submitter
- CYP1A1 p.Ile372Ser Uncertain significance Single submitter
- CYP1A1 p.Ile449Asn Uncertain significance Single submitter
- CYP1A1 p.Ile462Asn Uncertain significance Single submitter
- CYP1A1 p.Ile92Ser Uncertain significance Single submitter
- CYP1A1 p.Lys264Asn Uncertain significance Single submitter
- CYP1A1 p.Met265Val Uncertain significance Single submitter
- CYP1A1 p.Met368Val Uncertain significance Single submitter
- CYP1A1 p.Met498Leu Uncertain significance Single submitter
- CYP1A1 p.Phe480Leu Uncertain significance Single submitter
- CYP1A1 p.Pro383His Uncertain significance Single submitter
- CYP1A1 p.Pro59Ser Uncertain significance Single submitter
- CYP1A1 p.Ser172Asn Uncertain significance Single submitter
- CYP1A1 p.Ser329Asn Uncertain significance Single submitter
- CYP1A1 p.Ser481Thr Uncertain significance Single submitter
- CYP1A1 p.Ser6Phe Uncertain significance Single submitter
- CYP1A1 p.Ser80Phe Uncertain significance Single submitter
- CYP1A1 p.Tyr400His Uncertain significance Single submitter
- CYP1A1 p.Val422Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- CYP1A1 p.Arg511Leu Benign Multiple submitters
- CYP1A1 p.Arg355Gln Uncertain significance Single submitter
- CYP1A1 p.Arg431Trp Uncertain significance Single submitter
- CYP1A1 p.Asn185Lys Uncertain significance Single submitter
- CYP1A1 p.Asp126Asn Uncertain significance Single submitter
- CYP1A1 p.Asp126Gly Uncertain significance Single submitter
- CYP1A1 p.Asp440Val Uncertain significance Single submitter
- CYP1A1 p.Asp90Asn Uncertain significance Single submitter
- CYP1A1 p.Gln344His Uncertain significance Single submitter
- CYP1A1 p.Gly225Trp Uncertain significance Single submitter
- CYP1A1 p.Gly404Arg Uncertain significance Single submitter
- CYP1A1 p.His416Gln Uncertain significance Single submitter
- CYP1A1 p.His500Asp Uncertain significance Single submitter
- CYP1A1 p.Ile281Val Uncertain significance Single submitter
- CYP1A1 p.Leu214Val Uncertain significance Single submitter
- CYP1A1 p.Leu248Arg Uncertain significance Single submitter
- CYP1A1 p.Phe261Ile Uncertain significance Single submitter
- CYP1A1 p.Pro186Thr Uncertain significance Single submitter
- CYP1A1 p.Pro337His Uncertain significance Single submitter
- CYP1A1 p.Pro337Ser Uncertain significance Single submitter
- CYP1A1 p.Ser284Asn Uncertain significance Single submitter
- CYP1A1 p.Ser29Pro Uncertain significance Single submitter
- CYP1A1 p.Ser389Arg Uncertain significance Single submitter
- CYP1A1 p.Ser395Asn Uncertain significance Single submitter
- CYP1A1 p.Ser444Asn Uncertain significance Single submitter
- CYP1A1 p.Tyr494Cys Uncertain significance Single submitter
- CYP1A1 p.Val486Met Uncertain significance Single submitter
-
CYP1A1 p.Arg477Trp
Likely benign
No assertion criteria
CYP1A1-related disorder
-
CYP1A1 p.Gly45Asp
Benign
No assertion criteria
CYP1A1-related disorder
-
CYP1A1 p.Val482Met
Benign
No assertion criteria
CYP1A1-related disorder
All CYP1A1 variants
Benign 9
- p.Arg464Ser Multiple submitters
- p.Arg511Leu Multiple submitters ⚠
- p.Ile78Thr Multiple submitters
- p.Pro238Ser Multiple submitters
- p.Thr491= Multiple submitters
- p.Gly45Asp No assertion criteria CYP1A1-related disorder ⚠
- p.Ile462Val No assertion criteria CYP1A1-related disorder
- p.Thr461Asn No assertion criteria CYP1A1-related disorder
- p.Val482Met No assertion criteria CYP1A1-related disorder ⚠
Benign/Likely benign 1
- p.Ile286Thr Multiple submitters
Likely benign 13
- p.Asp440Asn Multiple submitters
- p.Ile458= Multiple submitters
- p.Arg106fs Single submitter
- p.Arg98Gln Single submitter
- p.Tyr259His Single submitter
- p.Arg477Trp No assertion criteria CYP1A1-related disorder ⚠
- p.Arg93Gln No assertion criteria CYP1A1-related disorder
- p.Gln340= No assertion criteria CYP1A1-related disorder
- p.Gly105= No assertion criteria CYP1A1-related disorder
- p.Gly398= No assertion criteria CYP1A1-related disorder
- p.Lys456_Cys457insTer No assertion criteria CYP1A1-related disorder
- p.Pro59= No assertion criteria CYP1A1-related disorder
- p.Thr173= No assertion criteria CYP1A1-related disorder
Uncertain significance 56
- p.Arg355Gln Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg431Trp Single submitter ⚠
- p.Asn185Lys Single submitter ⚠
- p.Asn222Ser Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp126Gly Single submitter ⚠
- p.Asp235Ala Single submitter ⚠
- p.Asp440Val Single submitter ⚠
- p.Asp90Asn Single submitter ⚠
- p.Cys406Tyr Single submitter ⚠
- p.Gln293Glu Single submitter ⚠
- p.Gln344His Single submitter ⚠
- p.Gly225Arg Single submitter ⚠
- p.Gly225Glu Single submitter ⚠
- p.Gly225Trp Single submitter ⚠
- p.Gly404Arg Single submitter ⚠
- p.Gly453Arg Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.His183Arg Single submitter ⚠
- p.His388Tyr Single submitter ⚠
- p.His416Gln Single submitter ⚠
- p.His500Asp Single submitter ⚠
- p.Ile115Met Single submitter ⚠
- p.Ile281Val Single submitter ⚠
- p.Ile372Ser Single submitter ⚠
- p.Ile449Asn Single submitter ⚠
- p.Ile462Asn Single submitter ⚠
- p.Ile92Ser Single submitter ⚠
- p.Leu214Val Single submitter ⚠
- p.Leu248Arg Single submitter ⚠
- p.Lys264Asn Single submitter ⚠
- p.Met265Val Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Met498Leu Single submitter ⚠
- p.Phe261Ile Single submitter ⚠
- p.Phe480Leu Single submitter ⚠
- p.Pro186Thr Single submitter ⚠
- p.Pro337His Single submitter ⚠
- p.Pro337Ser Single submitter ⚠
- p.Pro383His Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Ser172Asn Single submitter ⚠
- p.Ser284Asn Single submitter ⚠
- p.Ser29Pro Single submitter ⚠
- p.Ser329Asn Single submitter ⚠
- p.Ser389Arg Single submitter ⚠
- p.Ser395Asn Single submitter ⚠
- p.Ser444Asn Single submitter ⚠
- p.Ser481Thr Single submitter ⚠
- p.Ser6Phe Single submitter ⚠
- p.Ser80Phe Single submitter ⚠
- p.Tyr400His Single submitter ⚠
- p.Tyr494Cys Single submitter ⚠
- p.Val422Ile Single submitter ⚠
- p.Val486Met Single submitter ⚠