PIN1 — 14 ClinVar variants
All ClinVar germline PIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Likely benign · 13 Uncertain significance
Full PIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIN1 p.Ala53Ser Uncertain significance Single submitter
- PIN1 p.Arg119Lys Uncertain significance Single submitter
- PIN1 p.Arg74Trp Uncertain significance Single submitter
- PIN1 p.Gln109His Uncertain significance Single submitter
- PIN1 p.Gln66Glu Uncertain significance Single submitter
- PIN1 p.Gln75Glu Uncertain significance Single submitter
- PIN1 p.Gly10Ser Uncertain significance Single submitter
- PIN1 p.Gly39Ser Uncertain significance Single submitter
- PIN1 p.Pro8Leu Uncertain significance Single submitter
- PIN1 p.Pro8Ser Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PIN1 variants
Likely benign 1
- p.Pro8= Single submitter
Uncertain significance 13
- p.Ala140Val Single submitter
- p.Ala53Ser Single submitter ⚠
- p.Arg119Lys Single submitter ⚠
- p.Arg74Trp Single submitter ⚠
- p.Gln109His Single submitter ⚠
- p.Gln66Glu Single submitter ⚠
- p.Gln75Glu Single submitter ⚠
- p.Gly10Ser Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Pro8Leu Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Ser114Asn Single submitter ⚠
- p.Ser38Arg Single submitter