PITPNB — 15 ClinVar variants
All ClinVar germline PITPNB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
15 Uncertain significance
Full PITPNB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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.
- PITPNB p.Ala90Val Uncertain significance Single submitter
- PITPNB p.Asp159Tyr Uncertain significance Single submitter
- PITPNB p.Cys187Tyr Uncertain significance Single submitter
- PITPNB p.Gln16Arg Uncertain significance Single submitter
- PITPNB p.Ile111Val Uncertain significance Single submitter
- PITPNB p.Lys50Thr Uncertain significance Single submitter
- PITPNB p.Phe71Ser Uncertain significance Single submitter
- PITPNB p.Thr266Met Uncertain significance Single submitter
- PITPNB p.Thr58Met Uncertain significance Single submitter
- PITPNB p.Tyr57Cys Uncertain significance Single submitter
- PITPNB p.Val15Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PITPNB variants
Uncertain significance 15
- c.20+71G>A Single submitter
- c.372+1del Single submitter
- p.Ala90Val Single submitter ⚠
- p.Asp159Tyr Single submitter ⚠
- p.Cys187Tyr Single submitter ⚠
- p.Gln16Arg Single submitter ⚠
- p.His84Gln Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Lys50Thr Single submitter ⚠
- p.Phe71Ser Single submitter ⚠
- p.Pro172Arg Single submitter
- p.Thr266Met Single submitter ⚠
- p.Thr58Met Single submitter ⚠
- p.Tyr57Cys Single submitter ⚠
- p.Val15Ile Single submitter ⚠