PTPRF — 356 ClinVar variants

All ClinVar germline PTPRF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 247 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 22 Benign · 5 Benign/Likely benign · 68 Likely benign · 259 Uncertain significance

Full PTPRF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 247

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 171

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 171

Predictors split 76

The independent predictors disagree with each other — read with care.

All PTPRF variants

Pathogenic 1

  • p.Val616fs No assertion criteria breasts and/or nipples, aplasia or hypoplasia of, 2

Likely pathogenic 1

  • p.Lys320fs Single submitter breasts and/or nipples, aplasia or hypoplasia of, 2

Benign 22

Benign/Likely benign 5

Likely benign 68

Uncertain significance 259