CCT8L2 — 94 ClinVar variants

All ClinVar germline CCT8L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

1 Benign · 7 Likely benign · 86 Uncertain significance

Full CCT8L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 43

The independent predictors disagree with each other — read with care.

All CCT8L2 variants

Benign 1

p.Pro344Thr Multiple submitters ⚠

Likely benign 7

p.Gly473Ala Single submitter
p.His179Tyr Single submitter
p.Ile224Met Single submitter ⚠
p.Leu476Phe Single submitter ⚠
p.Ser274= Single submitter
p.Ser537Pro Single submitter
p.Val313Met Single submitter

Uncertain significance 86

p.Ala106Asp Single submitter ⚠
p.Ala106Gly Single submitter ⚠
p.Ala137Thr Single submitter ⚠
p.Ala141Ser Single submitter ⚠
p.Ala145Thr Single submitter ⚠
p.Ala151Pro Single submitter ⚠
p.Ala185Asp Single submitter ⚠
p.Ala190Thr Single submitter ⚠
p.Ala207Val Single submitter ⚠
p.Ala251Val Single submitter ⚠
p.Ala259Ser Single submitter ⚠
p.Ala317Thr Single submitter ⚠
p.Ala489Thr Single submitter ⚠
p.Ala523Val Single submitter ⚠
p.Arg129Cys Single submitter ⚠
p.Arg129His Single submitter ⚠
p.Arg14Trp Single submitter ⚠
p.Arg202Cys Single submitter ⚠
p.Arg202His Single submitter ⚠
p.Arg260Cys Single submitter ⚠
p.Arg352Thr Single submitter ⚠
p.Arg378Trp Single submitter ⚠
p.Arg386Trp Single submitter ⚠
p.Arg48Gln Single submitter ⚠
p.Arg91Gln Single submitter ⚠
p.Asn254Lys Single submitter ⚠
p.Asn475Lys Single submitter ⚠
p.Asn475Thr Single submitter ⚠
p.Asp103Asn Single submitter ⚠
p.Asp178Glu Single submitter ⚠
p.Asp300Asn Single submitter ⚠
p.Asp331His Single submitter ⚠
p.Asp397Asn Single submitter ⚠
p.Asp462Glu Single submitter ⚠
p.Cys188Tyr Single submitter ⚠
p.Cys206Phe Single submitter ⚠
p.Cys206Tyr Single submitter ⚠
p.Cys217Tyr Single submitter ⚠
p.Cys229Arg Single submitter ⚠
p.Gln13Leu Single submitter ⚠
p.Glu193Asp Single submitter ⚠
p.Glu328Asp Single submitter ⚠
p.Glu483Asp Single submitter ⚠
p.Glu548Gly Single submitter ⚠
p.Gly210Arg Single submitter ⚠
p.Gly379Glu Single submitter ⚠
p.Gly395Cys Single submitter ⚠
p.Gly413Arg Single submitter ⚠
p.Gly469Glu Single submitter ⚠
p.Gly484Val Single submitter ⚠
p.Gly65Arg Single submitter ⚠
p.His394Arg Single submitter ⚠
p.Ile312Val Single submitter ⚠
p.Ile396Ser Single submitter ⚠
p.Ile552Phe Single submitter ⚠
p.Leu218Pro Single submitter ⚠
p.Leu243Phe Single submitter ⚠
p.Leu497Pro Single submitter ⚠
p.Leu77Ile Single submitter ⚠
p.Lys199Met Single submitter ⚠
p.Lys272Arg Single submitter ⚠
p.Met467Thr Single submitter ⚠
p.Phe438Ile Single submitter ⚠
p.Phe438Leu Single submitter ⚠
p.Pro128Leu Single submitter ⚠
p.Pro220Leu Single submitter ⚠
p.Pro31Ala Single submitter ⚠
p.Pro333Ser Single submitter ⚠
p.Pro340Leu Single submitter ⚠
p.Pro527Ala Single submitter ⚠
p.Ser22Ile Single submitter ⚠
p.Ser36Gly Single submitter ⚠
p.Ser3Gly Single submitter ⚠
p.Ser526Ile Single submitter ⚠
p.Thr112Met Single submitter ⚠
p.Thr258Ala Single submitter ⚠
p.Thr305Ala Single submitter ⚠
p.Thr370Arg Single submitter ⚠
p.Thr381Ile Single submitter ⚠
p.Thr516Ile Single submitter ⚠
p.Trp189Arg Single submitter ⚠
p.Val109Ala Single submitter ⚠
p.Val235Ala Single submitter ⚠
p.Val314Met Single submitter ⚠
p.Val521Ile Single submitter ⚠
p.Val5Ile Single submitter ⚠