CENPS-CORT — 15 ClinVar variants
All ClinVar germline CENPS-CORT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
15 Uncertain significance
Full CENPS-CORT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CENPS-CORT p.Ala48Gly Uncertain significance Single submitter
- CENPS-CORT p.Ala72Val Uncertain significance Single submitter
- CENPS-CORT p.Arg135Gln Uncertain significance Single submitter
- CENPS-CORT p.Asp81Glu Uncertain significance Single submitter
- CENPS-CORT p.Gln11His Uncertain significance Single submitter
- CENPS-CORT p.Glu39Gly Uncertain significance Single submitter
- CENPS-CORT p.Glu4Ala Uncertain significance Single submitter
- CENPS-CORT p.Glu9Lys Uncertain significance Single submitter
- CENPS-CORT p.Gly122Arg Uncertain significance Single submitter
- CENPS-CORT p.Gly138Ser Uncertain significance Single submitter
- CENPS-CORT p.His24Pro Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CENPS-CORT variants
Uncertain significance 15
- p.Ala48Gly Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg135Gln Single submitter ⚠
- p.Asn90Tyr Single submitter ⚠
- p.Asp81Glu Single submitter ⚠
- p.Gln11His Single submitter ⚠
- p.Glu33Ala Single submitter ⚠
- p.Glu39Gly Single submitter ⚠
- p.Glu4Ala Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.His24Pro Single submitter ⚠
- p.Phe61Leu Single submitter ⚠