CENPP — 54 ClinVar variants
All ClinVar germline CENPP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely pathogenic · 1 Benign · 9 Likely benign · 43 Uncertain significance
Full CENPP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CENPP p.Ala211Thr Uncertain significance Single submitter
- CENPP p.Arg180His Uncertain significance Single submitter
- CENPP p.Arg34Gln Uncertain significance Single submitter
- CENPP p.Asn287Ser Uncertain significance Single submitter
- CENPP p.Asp227Glu Uncertain significance Single submitter
- CENPP p.Asp55Glu Uncertain significance Single submitter
- CENPP p.Glu129Lys Uncertain significance Single submitter
- CENPP p.Glu285Gln Uncertain significance Single submitter
- CENPP p.Gly75Cys Uncertain significance Single submitter
- CENPP p.His112Tyr Uncertain significance Single submitter
- CENPP p.His186Tyr Uncertain significance Single submitter
- CENPP p.His62Arg Uncertain significance Single submitter
- CENPP p.Ile140Val Uncertain significance Single submitter
- CENPP p.Ile42Leu Uncertain significance Single submitter
- CENPP p.Lys54Asn Uncertain significance Single submitter
- CENPP p.Phe184Leu Uncertain significance Single submitter
- CENPP p.Ser68Ala Uncertain significance Single submitter
- CENPP p.Ser90Gly Uncertain significance Single submitter
- CENPP p.Ser97Thr Uncertain significance Single submitter
- CENPP p.Val101Leu Uncertain significance Single submitter
- CENPP p.Val35Ile Uncertain significance Single submitter
- CENPP p.Val8Met Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CENPP p.Ala17Val Uncertain significance Single submitter
- CENPP p.Ala258Gly Uncertain significance Single submitter
- CENPP p.Arg209Cys Uncertain significance Single submitter
- CENPP p.Arg209Gly Uncertain significance Single submitter
- CENPP p.Arg209His Uncertain significance Single submitter
- CENPP p.Asp137Val Uncertain significance Single submitter
- CENPP p.Glu124Gly Uncertain significance Single submitter
- CENPP p.Glu159Gln Uncertain significance Single submitter
- CENPP p.Glu189Lys Uncertain significance Single submitter
- CENPP p.Glu272Lys Uncertain significance Single submitter
- CENPP p.Glu7Gln Uncertain significance Single submitter
- CENPP p.Gly49Val Uncertain significance Single submitter
- CENPP p.Ile76Val Uncertain significance Single submitter
- CENPP p.Leu197Val Uncertain significance Single submitter
- CENPP p.Lys190Asn Uncertain significance Single submitter
- CENPP p.Lys241Asn Uncertain significance Single submitter
- CENPP p.Ser205Pro Uncertain significance Single submitter
- CENPP p.Ser210Arg Uncertain significance Single submitter
- CENPP p.Thr136Ala Uncertain significance Single submitter
- CENPP p.Thr89Arg Uncertain significance Single submitter
- CENPP p.Val195Met Uncertain significance Single submitter
-
CENPP p.Arg213Trp
Likely benign
No assertion criteria
CENPP-related disorder
-
CENPP p.Thr72Met
Likely benign
No assertion criteria
CENPP-related disorder
All CENPP variants
Likely pathogenic 1
- p.Cys283Ter Single submitter Low-frequency hearing loss
Benign 1
- c.564+94884TCA[18] No assertion criteria CENPP-related disorder
Likely benign 9
- p.Arg130Ser Single submitter
- p.Arg213Gln Single submitter
- p.Arg245Gln Single submitter
- p.Asn77Ser Single submitter
- p.Lys161Arg Single submitter
- p.Thr257Ala Single submitter
- p.Arg168Gln No assertion criteria CENPP-related disorder
- p.Arg213Trp No assertion criteria CENPP-related disorder ⚠
- p.Thr72Met No assertion criteria CENPP-related disorder ⚠
Uncertain significance 43
- p.Ala17Val Single submitter ⚠
- p.Ala211Thr Single submitter ⚠
- p.Ala258Gly Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg209Gly Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asp137Val Single submitter ⚠
- p.Asp227Glu Single submitter ⚠
- p.Asp55Glu Single submitter ⚠
- p.Glu124Gly Single submitter ⚠
- p.Glu129Lys Single submitter ⚠
- p.Glu159Gln Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu285Gln Single submitter ⚠
- p.Glu7Gln Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.Gly75Cys Single submitter ⚠
- p.His112Tyr Single submitter ⚠
- p.His186Tyr Single submitter ⚠
- p.His62Arg Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Ile42Leu Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Lys190Asn Single submitter ⚠
- p.Lys241Asn Single submitter ⚠
- p.Lys54Asn Single submitter ⚠
- p.Phe184Leu Single submitter ⚠
- p.Ser205Pro Single submitter ⚠
- p.Ser210Arg Single submitter ⚠
- p.Ser68Ala Single submitter ⚠
- p.Ser90Gly Single submitter ⚠
- p.Ser97Thr Single submitter ⚠
- p.Thr136Ala Single submitter ⚠
- p.Thr89Arg Single submitter ⚠
- p.Val101Leu Single submitter ⚠
- p.Val195Met Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val8Met Single submitter ⚠