PCNP — 18 ClinVar variants
All ClinVar germline PCNP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
2 Benign · 16 Uncertain significance
Full PCNP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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.
- PCNP p.Ala54Val Uncertain significance Single submitter
- PCNP p.Ala6Glu Uncertain significance Single submitter
- PCNP p.Glu9Gln Uncertain significance Single submitter
- PCNP p.Glu9Val Uncertain significance Single submitter
- PCNP p.Gly76Ser Uncertain significance Single submitter
- PCNP p.His174Arg Uncertain significance Single submitter
- PCNP p.Lys10Asn Uncertain significance Single submitter
- PCNP p.Pro100Ala Uncertain significance Single submitter
- PCNP p.Pro62Ala Uncertain significance Single submitter
- PCNP p.Pro62Gln Uncertain significance Single submitter
- PCNP p.Ser108Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PCNP variants
Benign 2
- p.Lys13Arg Multiple submitters
- c.355-3T>C Single submitter
Uncertain significance 16
- p.Ala54Val Single submitter ⚠
- p.Ala6Glu Single submitter ⚠
- p.Asp116Gly Single submitter ⚠
- p.Glu9Gln Single submitter ⚠
- p.Glu9Val Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.Lys10Asn Single submitter ⚠
- p.Lys82fs Single submitter
- p.Met1Thr Single submitter
- p.Pro100Ala Single submitter ⚠
- p.Pro62Ala Single submitter ⚠
- p.Pro62Gln Single submitter ⚠
- p.Pro95Leu Single submitter
- p.Ser108Ala Single submitter ⚠
- p.Thr141Ser Single submitter ⚠