CAT — 64 ClinVar variants
All ClinVar germline CAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 11 Benign · 2 Benign/Likely benign · 16 Likely benign · 28 Uncertain significance
Full CAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAT p.Ala333Thr Uncertain significance Single submitter
- CAT p.Ala478Glu Uncertain significance Single submitter
- CAT p.Ala478Val Uncertain significance Single submitter
- CAT p.Gly216Val Uncertain significance Single submitter
- CAT p.His235Arg Uncertain significance Single submitter
- CAT p.His466Pro Uncertain significance Single submitter
- CAT p.His486Pro Uncertain significance Single submitter
- CAT p.Ile242Val Uncertain significance Single submitter
- CAT p.Ile509Ser Uncertain significance Single submitter
- CAT p.Leu299Phe Uncertain significance Single submitter
- CAT p.Leu351Pro Uncertain significance Single submitter
- CAT p.Lys177Thr Uncertain significance Single submitter
- CAT p.Lys233Gln Uncertain significance Single submitter
- CAT p.Tyr236Asp Uncertain significance Single submitter
- CAT p.Tyr358Cys Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CAT p.Arg189Cys Benign/Likely benign Multiple submitters
- CAT p.Asn385Thr Uncertain significance Single submitter
- CAT p.Asn452Ser Uncertain significance Single submitter
- CAT p.Asp469Val Uncertain significance Single submitter
- CAT p.Cys460Phe Uncertain significance Single submitter
- CAT p.Gly241Ser Uncertain significance Single submitter
- CAT p.Gly400Arg Uncertain significance Single submitter
- CAT p.Leu176Met Likely benign Single submitter
- CAT p.Met392Ile Uncertain significance Single submitter
- CAT p.Pro505Thr Uncertain significance Single submitter
- CAT p.Ser254Tyr Uncertain significance Single submitter
- CAT p.Thr291Ala Likely benign Single submitter
- CAT p.Val429Gly Uncertain significance Single submitter
- CAT p.Val450Met Uncertain significance Single submitter
- CAT p.Val52Ala Uncertain significance Single submitter
All CAT variants
Pathogenic 3
- c.480+5G>A No assertion criteria Acatalasemia, japanese type
- p.Ile69fs No assertion criteria acatalasia
- p.Ser120fs No assertion criteria Acatalasemia, japanese type
Likely pathogenic 2
- c.1057-2A>G Single submitter
- p.Arg66Ter Single submitter acatalasia
Conflicting classifications of pathogenicity 2
- c.1056+1G>C Single submitter acatalasia
- c.903+5G>T Single submitter acatalasia
Benign 11
- p.Gly390Asp Multiple submitters
- p.His492= Multiple submitters
- c.239-5G>A Single submitter
- c.349+4A>T Single submitter
- c.-20T>C Single submitter
- c.*5G>C Single submitter
- p.Ala520= Single submitter
- p.Asp389= Single submitter
- p.Ile109= Single submitter
- p.Ile242= Single submitter
- p.Leu419= Single submitter
Benign/Likely benign 2
- p.Arg189Cys Multiple submitters ⚠
- p.Phe185= Multiple submitters
Likely benign 16
- p.Asn439= Multiple submitters
- p.His209Tyr Multiple submitters
- c.1057-5T>C Single submitter
- c.350-5del Single submitter
- p.Gln255Arg Single submitter intellectual disability
- p.Gln424Arg Single submitter
- p.Gly208= Single submitter
- p.Ile493Thr Single submitter
- p.Leu176Met Single submitter ⚠
- p.Pro129= Single submitter
- p.Ser417= Single submitter
- p.Thr291Ala Single submitter ⚠
- p.Thr434Ser Single submitter
- p.Tyr489= Single submitter
- p.Tyr94= Single submitter
- p.Asp498= No assertion criteria CAT-related disorder
Uncertain significance 28
- p.Ala333Thr Single submitter ⚠
- p.Ala478Glu Single submitter ⚠
- p.Ala478Val Single submitter ⚠
- p.Asn385Thr Single submitter ⚠
- p.Asn452Ser Single submitter ⚠
- p.Asp469Val Single submitter ⚠
- p.Cys460Phe Single submitter ⚠
- p.Gly216Val Single submitter ⚠
- p.Gly241Ser Single submitter ⚠
- p.Gly400Arg Single submitter ⚠
- p.His235Arg Single submitter ⚠
- p.His466Pro Single submitter ⚠
- p.His486Pro Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile509Ser Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu351Pro Single submitter ⚠
- p.Lys177Thr Single submitter ⚠
- p.Lys233Gln Single submitter ⚠
- p.Met392Ile Single submitter ⚠
- p.Pro505Thr Single submitter ⚠
- p.Ser254Tyr Single submitter ⚠
- p.Tyr236Asp Single submitter ⚠
- p.Tyr358Cys Single submitter ⚠
- p.Val429Gly Single submitter ⚠
- p.Val450Met Single submitter ⚠
- p.Val52Ala Single submitter ⚠
- c.1518+6C>G No assertion criteria