CENATAC — 76 ClinVar variants

All ClinVar germline CENATAC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

2 Pathogenic · 4 Likely benign · 70 Uncertain significance

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

⚑ Evidence disagreements 71

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CENATAC p.Glu268Val Pathogenic No assertion criteria
mosaic variegated aneuploidy syndrome 4

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.

Predictors split 25

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

All CENATAC variants

Pathogenic 2

c.805+2_805+19del No assertion criteria mosaic variegated aneuploidy syndrome 4
p.Glu268Val No assertion criteria mosaic variegated aneuploidy syndrome 4 ⚠

Likely benign 4

p.Arg291Ser Single submitter
p.Glu330Gly Single submitter
p.Glu75Lys Single submitter ⚠
p.Val121Ile Single submitter

Uncertain significance 70

c.685-32_685-29del Single submitter mosaic variegated aneuploidy syndrome 4
p.Ala321Pro Single submitter ⚠
p.Ala33Thr Single submitter ⚠
p.Ala51Pro Single submitter ⚠
p.Arg11Cys Single submitter ⚠
p.Arg162Gln Single submitter ⚠
p.Arg167Leu Single submitter ⚠
p.Arg18Ser Single submitter ⚠
p.Arg281Gln Single submitter ⚠
p.Arg302Cys Single submitter ⚠
p.Arg302His Single submitter ⚠
p.Arg308Cys Single submitter ⚠
p.Arg308His Single submitter ⚠
p.Arg309Cys Single submitter ⚠
p.Asn103Lys Single submitter ⚠
p.Asn103Ser Single submitter ⚠
p.Asp125Asn Single submitter ⚠
p.Asp177Asn Single submitter ⚠
p.Asp177Gly Single submitter ⚠
p.Asp229Asn Single submitter ⚠
p.Asp280Glu Single submitter ⚠
p.Cys68Tyr Single submitter ⚠
p.Cys69Ser Single submitter ⚠
p.Gln154His Single submitter ⚠
p.Gln154Pro Single submitter ⚠
p.Gln201Glu Single submitter ⚠
p.Gln256Arg Single submitter ⚠
p.Gln256Lys Single submitter ⚠
p.Glu141Gly Single submitter ⚠
p.Glu212Gln Single submitter ⚠
p.Glu249Asp Single submitter ⚠
p.Glu268Gly Single submitter ⚠
p.Glu72Val Single submitter ⚠
p.Gly87Arg Single submitter ⚠
p.Gly87Trp Single submitter ⚠
p.Gly88Glu Single submitter ⚠
p.His314Tyr Single submitter ⚠
p.His60Gln Single submitter ⚠
p.Ile225Thr Single submitter ⚠
p.Ile246Phe Single submitter ⚠
p.Ile258Thr Single submitter ⚠
p.Leu199Phe Single submitter ⚠
p.Leu205Val Single submitter ⚠
p.Leu277Pro Single submitter ⚠
p.Leu37Pro Single submitter ⚠
p.Leu85Pro Single submitter ⚠
p.Leu9Val Single submitter ⚠
p.Lys131Glu Single submitter ⚠
p.Lys131Ile Single submitter ⚠
p.Lys271Glu Single submitter ⚠
p.Lys273Arg Single submitter ⚠
p.Met133Val Single submitter ⚠
p.Met216Val Single submitter ⚠
p.Met323Lys Single submitter ⚠
p.Pro123Ser Single submitter ⚠
p.Pro178Ala Single submitter ⚠
p.Pro178Thr Single submitter ⚠
p.Pro211Ser Single submitter ⚠
p.Pro242Ser Single submitter ⚠
p.Pro39Ser Single submitter ⚠
p.Pro58Ala Single submitter ⚠
p.Ser289Gly Single submitter ⚠
p.Ser293Arg Single submitter ⚠
p.Thr13Ala Single submitter ⚠
p.Thr329Ile Single submitter ⚠
p.Thr83Met Single submitter ⚠
p.Tyr56Cys Single submitter ⚠
p.Val134Leu Single submitter ⚠
p.Val147Met Single submitter ⚠
p.Gln272Arg No assertion criteria ⚠