CCT3 — 72 ClinVar variants
All ClinVar germline CCT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
2 Pathogenic · 1 Benign · 3 Likely benign · 66 Uncertain significance
Full CCT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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.
- CCT3 p.Arg167Gln Uncertain significance Single submitter
- CCT3 p.Arg16Cys Uncertain significance Single submitter
- CCT3 p.Arg230Trp Uncertain significance Single submitter
- CCT3 p.Arg313His Uncertain significance Single submitter
- CCT3 p.Arg339Lys Uncertain significance Single submitter
- CCT3 p.Arg399Cys Uncertain significance Single submitter
- CCT3 p.Arg399Leu Uncertain significance Single submitter
- CCT3 p.Arg449His Uncertain significance Single submitter
- CCT3 p.Arg461His Uncertain significance Single submitter
- CCT3 p.Arg518Gln Uncertain significance Single submitter
- CCT3 p.Arg5His Uncertain significance Single submitter
- CCT3 p.Asn174Ser Uncertain significance Single submitter
- CCT3 p.Asn26Ser Uncertain significance Single submitter
- CCT3 p.Asn28Ser Uncertain significance Single submitter
- CCT3 p.Asp242Tyr Uncertain significance Single submitter
- CCT3 p.Asp531Asn Uncertain significance Single submitter
- CCT3 p.Gln453Glu Uncertain significance Single submitter
- CCT3 p.Gly206Arg Uncertain significance Single submitter
- CCT3 p.Gly92Arg Uncertain significance Single submitter
- CCT3 p.His4Tyr Uncertain significance Single submitter
- CCT3 p.Ile160Val Uncertain significance Single submitter
- CCT3 p.Ile256Val Uncertain significance Single submitter
- CCT3 p.Met151Thr Uncertain significance Single submitter
- CCT3 p.Met182Ile Uncertain significance Single submitter
- CCT3 p.Met270Leu Uncertain significance Single submitter
- CCT3 p.Pro287Leu Uncertain significance Single submitter
- CCT3 p.Ser141Arg Uncertain significance Single submitter
- CCT3 p.Tyr232Cys Uncertain significance Single submitter
- CCT3 p.Val122Leu Uncertain significance Single submitter
- CCT3 p.Val144Asp Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- CCT3 p.Ala307Thr Uncertain significance Single submitter
- CCT3 p.Ala421Gly Uncertain significance Single submitter
- CCT3 p.Ala457Ser Uncertain significance Single submitter
- CCT3 p.Arg127Cys Uncertain significance Single submitter
- CCT3 p.Arg230Gln Uncertain significance Single submitter
- CCT3 p.Arg330Gln Uncertain significance Single submitter
- CCT3 p.Arg334Gln Uncertain significance Single submitter
- CCT3 p.Arg535Trp Uncertain significance Single submitter
- CCT3 p.Asn13Lys Uncertain significance Single submitter
- CCT3 p.Asn188Asp Uncertain significance Single submitter
- CCT3 p.Asn308Ser Uncertain significance Single submitter
- CCT3 p.Asn320Ser Uncertain significance Single submitter
- CCT3 p.Asp211Asn Uncertain significance Single submitter
-
CCT3 p.Gln12Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
- CCT3 p.Gln277His Uncertain significance Single submitter
- CCT3 p.Gln73Arg Uncertain significance Single submitter
- CCT3 p.Glu186Lys Uncertain significance Single submitter
- CCT3 p.Glu192Ala Uncertain significance Single submitter
- CCT3 p.Gly207Ser Uncertain significance Single submitter
- CCT3 p.Ile123Val Uncertain significance Single submitter
- CCT3 p.Ile267Val Uncertain significance Single submitter
- CCT3 p.Ile27Leu Uncertain significance Single submitter
- CCT3 p.Ile70Val Uncertain significance Single submitter
- CCT3 p.Leu245Val Uncertain significance Single submitter
- CCT3 p.Leu299Ile Uncertain significance Single submitter
- CCT3 p.Lys294Arg Uncertain significance Single submitter
- CCT3 p.Lys370Thr Uncertain significance Single submitter
- CCT3 p.Met490Val Uncertain significance Single submitter
- CCT3 p.Ser24Pro Likely benign Single submitter
- CCT3 p.Ser385Leu Uncertain significance Single submitter
- CCT3 p.Thr471Ile Uncertain significance Single submitter
- CCT3 p.Tyr198Asn Uncertain significance Single submitter
All CCT3 variants
Pathogenic 2
- p.Thr265fs Single submitter neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
- p.Gln396fs No assertion criteria neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Benign 1
- c.94-3T>C Single submitter
Likely benign 3
- p.Ala76= Single submitter
- p.Gly538Arg Single submitter
- p.Ser24Pro Single submitter ⚠
Uncertain significance 66
- p.Ala307Thr Single submitter ⚠
- p.Ala421Gly Single submitter ⚠
- p.Ala457Ser Single submitter ⚠
- p.Arg127Cys Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg313His Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg339Lys Single submitter ⚠
- p.Arg399Cys Single submitter ⚠
- p.Arg399Leu Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg518Gln Single submitter ⚠
- p.Arg518Ter Single submitter neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
- p.Arg535Trp Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Asn13Lys Single submitter ⚠
- p.Asn174Ser Single submitter ⚠
- p.Asn188Asp Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asn28Ser Single submitter ⚠
- p.Asn308Ser Single submitter ⚠
- p.Asn320Ser Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp242Tyr Single submitter ⚠
- p.Asp531Asn Single submitter ⚠
- p.Gln12Arg Single submitter neurodevelopmental disorder with speech or visual impairment and brain hypomyelination ⚠
- p.Gln277His Single submitter ⚠
- p.Gln453Glu Single submitter ⚠
- p.Gln73Arg Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Glu192Ala Single submitter ⚠
- p.Gly206Arg Single submitter ⚠
- p.Gly207Ser Single submitter ⚠
- p.Gly92Arg Single submitter ⚠
- p.His4Tyr Single submitter ⚠
- p.Ile123Val Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile27Leu Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu113fs Single submitter
- p.Leu245Val Single submitter ⚠
- p.Leu299Ile Single submitter ⚠
- p.Lys294Arg Single submitter ⚠
- p.Lys370Thr Single submitter ⚠
- p.Met133fs Single submitter neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
- p.Met151Thr Single submitter ⚠
- p.Met182Ile Single submitter ⚠
- p.Met270Leu Single submitter ⚠
- p.Met490Val Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Ser141Arg Single submitter ⚠
- p.Ser385Leu Single submitter ⚠
- p.Thr471Ile Single submitter ⚠
- p.Tyr198Asn Single submitter ⚠
- p.Tyr198fs Single submitter
- p.Tyr232Cys Single submitter ⚠
- p.Tyr506Ter Single submitter
- p.Val122Leu Single submitter ⚠
- p.Val144Asp Single submitter ⚠