PCTP — 33 ClinVar variants
All ClinVar germline PCTP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
3 Likely benign · 30 Uncertain significance
Full PCTP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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.
- PCTP p.Ala206Thr Uncertain significance Single submitter
- PCTP p.Ala5Thr Uncertain significance Single submitter
- PCTP p.Arg121Gln Uncertain significance Single submitter
- PCTP p.Arg151Gln Uncertain significance Single submitter
- PCTP p.Arg151Trp Uncertain significance Single submitter
- PCTP p.Asn111Asp Uncertain significance Single submitter
- PCTP p.Asn94Ser Uncertain significance Single submitter
- PCTP p.Gly181Asp Uncertain significance Single submitter
- PCTP p.His131Arg Uncertain significance Single submitter
- PCTP p.Ile130Phe Uncertain significance Single submitter
- PCTP p.Ile150Val Uncertain significance Single submitter
- PCTP p.Leu211Phe Uncertain significance Single submitter
- PCTP p.Leu45Pro Uncertain significance Single submitter
- PCTP p.Met109Val Uncertain significance Single submitter
- PCTP p.Met73Val Uncertain significance Single submitter
- PCTP p.Pro184Leu Uncertain significance Single submitter
- PCTP p.Ser158Asn Uncertain significance Single submitter
- PCTP p.Ser40Arg Uncertain significance Single submitter
- PCTP p.Thr49Asn Uncertain significance Single submitter
- PCTP p.Tyr114Cys Uncertain significance Single submitter
- PCTP p.Tyr174Cys Uncertain significance Single submitter
- PCTP p.Val103Gly Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PCTP p.Ala160Thr Uncertain significance Single submitter
- PCTP p.Arg120Trp Uncertain significance Single submitter
- PCTP p.Gly165Ala Uncertain significance Single submitter
- PCTP p.Leu44Pro Uncertain significance Single submitter
- PCTP p.Leu60Pro Uncertain significance Single submitter
- PCTP p.Met173Ile Uncertain significance Single submitter
- PCTP p.Tyr72Cys Uncertain significance Single submitter
All PCTP variants
Likely benign 3
- p.Arg136Gln Single submitter
- p.Met140Val Single submitter
- p.Ser37Leu Single submitter
Uncertain significance 30
- p.Ala160Thr Single submitter ⚠
- p.Ala191Thr Single submitter
- p.Ala206Thr Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg121Gln Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Asn111Asp Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Gly165Ala Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.His131Arg Single submitter ⚠
- p.Ile130Phe Single submitter ⚠
- p.Ile150Val Single submitter ⚠
- p.Leu211Phe Single submitter ⚠
- p.Leu44Pro Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Met109Val Single submitter ⚠
- p.Met173Ile Single submitter ⚠
- p.Met73Val Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser40Arg Single submitter ⚠
- p.Thr49Asn Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr174Cys Single submitter ⚠
- p.Tyr72Cys Single submitter ⚠
- p.Val103Gly Single submitter ⚠