CTF1 — 209 ClinVar variants
All ClinVar germline CTF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
8 Conflicting · 3 Benign · 2 Benign/Likely benign · 64 Likely benign · 132 Uncertain significance
Full CTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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.
- CTF1 p.Ala152Pro Conflicting Single submitter
-
CTF1 p.Ala92Glu
Conflicting
Single submitter
Dilated Cardiomyopathy, Dominant
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTF1 p.Arg107Ser Uncertain significance Multiple submitters
- CTF1 p.Arg65Gln Uncertain significance Multiple submitters
- CTF1 p.Asp191Glu Uncertain significance Multiple submitters
- CTF1 p.Asp54Glu Uncertain significance Multiple submitters
- CTF1 p.Glu85Gln Uncertain significance Multiple submitters
- CTF1 p.Glu9Ala Uncertain significance Multiple submitters
- CTF1 p.His84Gln Uncertain significance Multiple submitters
- CTF1 p.Leu119Arg Uncertain significance Multiple submitters
- CTF1 p.Pro99Leu Uncertain significance Multiple submitters
-
CTF1 p.Ala126Gly
Uncertain significance
Single submitter
cardiomyopathy
- CTF1 p.Ala131Thr Uncertain significance Single submitter
- CTF1 p.Ala138Asp Uncertain significance Single submitter
- CTF1 p.Ala142Ser Uncertain significance Single submitter
- CTF1 p.Ala170Thr Uncertain significance Single submitter
- CTF1 p.Ala95Thr Uncertain significance Single submitter
- CTF1 p.Arg120Gly Uncertain significance Single submitter
- CTF1 p.Arg130Gly Uncertain significance Single submitter
- CTF1 p.Arg148Leu Uncertain significance Single submitter
- CTF1 p.Arg88Leu Uncertain significance Single submitter
- CTF1 p.Asn112His Uncertain significance Single submitter
- CTF1 p.Asn147His Uncertain significance Single submitter
- CTF1 p.Asp102His Uncertain significance Single submitter
- CTF1 p.Asp124Glu Uncertain significance Single submitter
- CTF1 p.Asp191Asn Uncertain significance Single submitter
- CTF1 p.Asp191His Uncertain significance Single submitter
- CTF1 p.Cys105Tyr Uncertain significance Single submitter
- CTF1 p.Glu137Gly Uncertain significance Single submitter
- CTF1 p.Glu183Asp Uncertain significance Single submitter
- CTF1 p.Glu189Ala Uncertain significance Single submitter
- CTF1 p.Gly179Asp Uncertain significance Single submitter
- CTF1 p.Gly53Glu Uncertain significance Single submitter
- CTF1 p.Gly70Ser Uncertain significance Single submitter
- CTF1 p.Gly80Arg Uncertain significance Single submitter
- CTF1 p.His22Asp Uncertain significance Single submitter
- CTF1 p.His35Asn Uncertain significance Single submitter
- CTF1 p.Leu111Pro Uncertain significance Single submitter
-
CTF1 p.Leu132Arg
Uncertain significance
Single submitter
dilated cardiomyopathy
- CTF1 p.Phe61Leu Uncertain significance Single submitter
- CTF1 p.Pro11Arg Uncertain significance Single submitter
- CTF1 p.Pro99Ala Uncertain significance Single submitter
- CTF1 p.Ser163Pro Uncertain significance Single submitter
- CTF1 p.Ser62Thr Uncertain significance Single submitter
- CTF1 p.Thr13Ala Uncertain significance Single submitter
- CTF1 p.Thr158Pro Uncertain significance Single submitter
- CTF1 p.Tyr48Asp Uncertain significance Single submitter
Predictors split 64
The independent predictors disagree with each other — read with care.
-
CTF1 p.Ala156Thr
Uncertain significance
Multiple submitters
cardiomyopathy
- CTF1 p.Ala34Val Uncertain significance Multiple submitters
- CTF1 p.Arg176His Uncertain significance Multiple submitters
- CTF1 p.Glu85Lys Uncertain significance Multiple submitters
-
CTF1 p.Gly199Asp
Benign/Likely benign
Multiple submitters
cardiomyopathy
- CTF1 p.His84Tyr Uncertain significance Multiple submitters
- CTF1 p.Pro116Arg Uncertain significance Multiple submitters
- CTF1 p.Pro116Leu Uncertain significance Multiple submitters
- CTF1 p.Pro155His Uncertain significance Multiple submitters
- CTF1 p.Pro169Ser Uncertain significance Multiple submitters
-
CTF1 p.Pro98Leu
Uncertain significance
Multiple submitters
hypertrophic cardiomyopathy
- CTF1 p.Val172Ala Uncertain significance Multiple submitters
- CTF1 p.Ala129Asp Uncertain significance Single submitter
- CTF1 p.Ala129Val Uncertain significance Single submitter
- CTF1 p.Ala134Thr Uncertain significance Single submitter
- CTF1 p.Ala138Pro Uncertain significance Single submitter
- CTF1 p.Ala157Asp Uncertain significance Single submitter
- CTF1 p.Ala159Ser Uncertain significance Single submitter
- CTF1 p.Ala161Val Uncertain significance Single submitter
- CTF1 p.Ala41Ser Conflicting Single submitter
- CTF1 p.Ala75Val Uncertain significance Single submitter
- CTF1 p.Ala96Glu Uncertain significance Single submitter
- CTF1 p.Arg107Cys Uncertain significance Single submitter
- CTF1 p.Arg120Cys Uncertain significance Single submitter
- CTF1 p.Arg127Cys Uncertain significance Single submitter
- CTF1 p.Arg148His Uncertain significance Single submitter
- CTF1 p.Arg151Gln Uncertain significance Single submitter
- CTF1 p.Arg151Trp Uncertain significance Single submitter
- CTF1 p.Arg176Cys Uncertain significance Single submitter
- CTF1 p.Arg182Ser Uncertain significance Single submitter
- CTF1 p.Arg187His Uncertain significance Single submitter
- CTF1 p.Arg28Cys Uncertain significance Single submitter
- CTF1 p.Arg28His Conflicting Single submitter
- CTF1 p.Glu110Lys Uncertain significance Single submitter
- CTF1 p.Glu153Lys Uncertain significance Single submitter
- CTF1 p.Gly144Val Uncertain significance Single submitter
- CTF1 p.Gly166Ala Uncertain significance Single submitter
- CTF1 p.Gly166Arg Uncertain significance Single submitter
- CTF1 p.Gly193Asp Uncertain significance Single submitter
- CTF1 p.Gly198Arg Uncertain significance Single submitter
- CTF1 p.Gly199Cys Uncertain significance Single submitter
- CTF1 p.Gly57Arg Uncertain significance Single submitter
- CTF1 p.His31Tyr Uncertain significance Single submitter
- CTF1 p.Ile27Thr Uncertain significance Single submitter
- CTF1 p.Leu122Val Uncertain significance Single submitter
- CTF1 p.Leu192Val Uncertain significance Single submitter
- CTF1 p.Leu195Arg Uncertain significance Single submitter
- CTF1 p.Leu23Val Uncertain significance Single submitter
- CTF1 p.Leu44Val Uncertain significance Single submitter
- CTF1 p.Leu71Met Uncertain significance Single submitter
- CTF1 p.Pro113Thr Uncertain significance Single submitter
- CTF1 p.Pro116Ala Uncertain significance Single submitter
- CTF1 p.Pro154Ser Uncertain significance Single submitter
- CTF1 p.Pro197Leu Uncertain significance Single submitter
- CTF1 p.Pro197Thr Uncertain significance Single submitter
-
CTF1 p.Pro64Ser
Conflicting
Single submitter
cardiomyopathy
- CTF1 p.Pro64Thr Uncertain significance Single submitter
- CTF1 p.Pro82Thr Uncertain significance Single submitter
- CTF1 p.Pro98Ala Uncertain significance Single submitter
- CTF1 p.Ser60Thr Uncertain significance Single submitter
- CTF1 p.Ser62Pro Uncertain significance Single submitter
- CTF1 p.Thr158Asn Uncertain significance Single submitter
- CTF1 p.Thr165Ile Uncertain significance Single submitter
- CTF1 p.Val104Ala Uncertain significance Single submitter
All CTF1 variants
Conflicting classifications of pathogenicity 8
- c.145-10G>A Single submitter
- c.145-13C>T Single submitter
- c.26-12C>G Single submitter cardiomyopathy
- p.Ala152Pro Single submitter ⚠
- p.Ala41Ser Single submitter ⚠
- p.Ala92Glu Single submitter Dilated Cardiomyopathy, Dominant ⚠
- p.Arg28His Single submitter ⚠
- p.Pro64Ser Single submitter cardiomyopathy ⚠
Benign 3
- c.*282C>T Multiple submitters
- p.Tyr40= Multiple submitters cardiomyopathy
- c.26-1030C>G Single submitter
Benign/Likely benign 2
- p.Gly199Asp Multiple submitters cardiomyopathy ⚠
- p.Leu94= Multiple submitters cardiomyopathy
Likely benign 64
- c.144+7G>T Multiple submitters
- p.Ala138= Multiple submitters
- p.Leu19Ile Multiple submitters
- c.144+19G>C Single submitter
- c.145-15G>T Single submitter
- c.145-19G>A Single submitter
- c.145-204G>C Single submitter
- c.145-313_145-312del Single submitter
- c.145-4G>A Single submitter
- c.25+10dup Single submitter cardiomyopathy
- c.26-13C>A Single submitter
- c.26-13C>G Single submitter
- c.26-13C>T Single submitter
- c.26-15C>T Single submitter
- c.26-17C>G Single submitter
- c.26-17C>T Single submitter
- c.26-6C>T Single submitter
- p.Ala134= Single submitter
- p.Ala142= Single submitter
- p.Ala152= Single submitter
- p.Ala161= Single submitter
- p.Ala170= Single submitter
- p.Ala25= Single submitter
- p.Ala34= Single submitter
- p.Ala69= Single submitter
- p.Ala73= Single submitter
- p.Ala93= Single submitter
- p.Ala95= Single submitter
- p.Arg106= Single submitter
- p.Arg114= Single submitter
- p.Arg114His Single submitter
- p.Arg121= Single submitter
- p.Arg148= Single submitter
- p.Arg88= Single submitter
- p.Asp102= Single submitter
- p.Gln194= Single submitter
- p.Glu153= Single submitter
- p.Gly133= Single submitter
- p.Gly149= Single submitter
- p.Gly166= Single submitter
- p.Gly179= Single submitter
- p.Gly190= Single submitter
- p.Gly198= Single submitter
- p.Leu140= Single submitter
- p.Leu143= Single submitter
- p.Leu185= Single submitter
- p.Leu196= Single submitter
- p.Leu37= Single submitter
- p.Leu58= Single submitter
- p.Leu97= Single submitter
- p.Pro155= Single submitter
- p.Pro169= Single submitter
- p.Pro197= Single submitter
- p.Pro67= Single submitter
- p.Pro76= Single submitter
- p.Pro82= Single submitter
- p.Pro98= Single submitter
- p.Ser200= Single submitter
- p.Thr158= Single submitter
- p.Thr165= Single submitter
- p.Thr38= Single submitter
- p.Val172= Single submitter
- p.Val177= Single submitter
- p.Ala156= No assertion criteria
Uncertain significance 132
- c.*5C>A Multiple submitters cardiomyopathy
- p.Ala156Thr Multiple submitters cardiomyopathy ⚠
- p.Ala170fs Multiple submitters cardiomyopathy
- p.Ala34Val Multiple submitters ⚠
- p.Arg107Ser Multiple submitters ⚠
- p.Arg176His Multiple submitters ⚠
- p.Arg65Gln Multiple submitters ⚠
- p.Asp191Glu Multiple submitters ⚠
- p.Asp54Glu Multiple submitters ⚠
- p.Gln12Ter Multiple submitters
- p.Glu85Gln Multiple submitters ⚠
- p.Glu85Lys Multiple submitters ⚠
- p.Glu9Ala Multiple submitters ⚠
- p.His84Gln Multiple submitters ⚠
- p.His84Tyr Multiple submitters ⚠
- p.Leu119Arg Multiple submitters ⚠
- p.Pro116Arg Multiple submitters ⚠
- p.Pro116Leu Multiple submitters ⚠
- p.Pro155His Multiple submitters ⚠
- p.Pro169Ser Multiple submitters ⚠
- p.Pro98Leu Multiple submitters hypertrophic cardiomyopathy ⚠
- p.Pro99Leu Multiple submitters ⚠
- p.Val172Ala Multiple submitters ⚠
- c.145-7T>A Single submitter
- c.25+6G>C Single submitter
- c.26-1G>A Single submitter
- c.*14G>A Single submitter
- p.Ala126Gly Single submitter cardiomyopathy ⚠
- p.Ala129Asp Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala138Asp Single submitter ⚠
- p.Ala138Pro Single submitter ⚠
- p.Ala142Ser Single submitter ⚠
- p.Ala156fs Single submitter dilated cardiomyopathy
- p.Ala157Asp Single submitter ⚠
- p.Ala159Ser Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala170Thr Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Ala95_Pro99dup Single submitter
- p.Ala95Thr Single submitter ⚠
- p.Ala96Glu Single submitter ⚠
- p.Arg106fs Single submitter
- p.Arg107Cys Single submitter ⚠
- p.Arg120Cys Single submitter ⚠
- p.Arg120Gly Single submitter ⚠
- p.Arg127Cys Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg148Leu Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg182= Single submitter
- p.Arg182Ser Single submitter ⚠
- p.Arg187His Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Asn112His Single submitter ⚠
- p.Asn147His Single submitter ⚠
- p.Asp102His Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp191Asn Single submitter ⚠
- p.Asp191His Single submitter ⚠
- p.Cys105Tyr Single submitter ⚠
- p.Gln29_Thr30delinsPro Single submitter
- p.Glu110Lys Single submitter ⚠
- p.Glu137Gly Single submitter ⚠
- p.Glu153fs Single submitter
- p.Glu153Lys Single submitter ⚠
- p.Glu183Asp Single submitter ⚠
- p.Glu189Ala Single submitter ⚠
- p.Glu189Ter Single submitter
- p.Glu85Ter Single submitter
- p.Gly144Val Single submitter ⚠
- p.Gly149_Ala152dup Single submitter
- p.Gly166Ala Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.Gly179Asp Single submitter ⚠
- p.Gly193Asp Single submitter ⚠
- p.Gly198Arg Single submitter ⚠
- p.Gly199Cys Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly80Arg Single submitter ⚠
- p.His22Asp Single submitter ⚠
- p.His31Tyr Single submitter ⚠
- p.His35Asn Single submitter ⚠
- p.Ile27Thr Single submitter ⚠
- p.Leu111Pro Single submitter ⚠
- p.Leu118fs Single submitter
- p.Leu119fs Single submitter
- p.Leu122Val Single submitter ⚠
- p.Leu132Arg Single submitter dilated cardiomyopathy ⚠
- p.Leu192Val Single submitter ⚠
- p.Leu195Arg Single submitter ⚠
- p.Leu196dup Single submitter
- p.Leu23Val Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Leu71Met Single submitter ⚠
- p.Leu97_Pro98insAlaAlaLeu Single submitter
- p.Phe168del Single submitter
- p.Phe61Leu Single submitter ⚠
- p.Pro113Thr Single submitter ⚠
- p.Pro116_Ala125del Single submitter
- p.Pro116Ala Single submitter ⚠
- p.Pro116fs Single submitter
- p.Pro116Thr Single submitter
- p.Pro11Arg Single submitter ⚠
- p.Pro154_Pro155insArgAlaGluPro Single submitter
- p.Pro154Ser Single submitter ⚠
- p.Pro155dup Single submitter
- p.Pro197Leu Single submitter ⚠
- p.Pro197Thr Single submitter ⚠
- p.Pro64Thr Single submitter ⚠
- p.Pro82Thr Single submitter ⚠
- p.Pro98Ala Single submitter ⚠
- p.Pro99Ala Single submitter ⚠
- p.Ser163Pro Single submitter ⚠
- p.Ser60Thr Single submitter ⚠
- p.Ser62Pro Single submitter ⚠
- p.Ser62Thr Single submitter ⚠
- p.Thr13Ala Single submitter ⚠
- p.Thr158Asn Single submitter ⚠
- p.Thr158Pro Single submitter ⚠
- p.Thr165Ile Single submitter ⚠
- p.Trp184Ter Single submitter
- p.Tyr48Asp Single submitter ⚠
- p.Val104Ala Single submitter ⚠