PCLAF — 15 ClinVar variants
All ClinVar germline PCLAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
15 Uncertain significance
Full PCLAF 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PCLAF p.Arg41Lys Uncertain significance Single submitter
- PCLAF p.Asp75Val Uncertain significance Single submitter
- PCLAF p.Lys24Arg Uncertain significance Single submitter
- PCLAF p.Lys97Glu Uncertain significance Single submitter
- PCLAF p.Thr106Ile Uncertain significance Single submitter
- PCLAF p.Thr33Ala Uncertain significance Single submitter
- PCLAF p.Val16Ala Uncertain significance Single submitter
- PCLAF p.Val17Met Uncertain significance Single submitter
- PCLAF p.Val25Glu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PCLAF variants
Uncertain significance 15
- p.Arg41Lys Single submitter ⚠
- p.Arg56Cys Single submitter
- p.Asp75Val Single submitter ⚠
- p.Lys24Arg Single submitter ⚠
- p.Lys46Thr Single submitter
- p.Lys97Glu Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro52Ala Single submitter ⚠
- p.Pro52Thr Single submitter ⚠
- p.Thr106Ile Single submitter ⚠
- p.Thr33Ala Single submitter ⚠
- p.Val16Ala Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val25Glu Single submitter ⚠
- p.Val55Met Single submitter ⚠