PRTN3 — 46 ClinVar variants
All ClinVar germline PRTN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Benign/Likely benign · 7 Likely benign · 38 Uncertain significance
Full PRTN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRTN3 p.Ala103Val Uncertain significance Single submitter
- PRTN3 p.Arg159His Uncertain significance Single submitter
- PRTN3 p.Arg227His Uncertain significance Single submitter
- PRTN3 p.Arg248His Uncertain significance Single submitter
- PRTN3 p.Arg255Cys Uncertain significance Single submitter
- PRTN3 p.Arg4Trp Uncertain significance Single submitter
- PRTN3 p.Asn174Ser Uncertain significance Single submitter
- PRTN3 p.Asp164Ala Uncertain significance Single submitter
- PRTN3 p.Cys72Tyr Uncertain significance Single submitter
- PRTN3 p.Glu33Gln Uncertain significance Single submitter
- PRTN3 p.Gly197Ser Uncertain significance Single submitter
- PRTN3 p.Gly58Arg Uncertain significance Single submitter
- PRTN3 p.His185Leu Uncertain significance Single submitter
- PRTN3 p.His32Tyr Uncertain significance Single submitter
- PRTN3 p.Leu238Phe Uncertain significance Single submitter
- PRTN3 p.Leu45Pro Uncertain significance Single submitter
- PRTN3 p.Lys253Asn Uncertain significance Single submitter
- PRTN3 p.Pro147Leu Uncertain significance Single submitter
- PRTN3 p.Pro166Gln Uncertain significance Single submitter
- PRTN3 p.Ser125Gly Uncertain significance Single submitter
- PRTN3 p.Ser53Gly Uncertain significance Single submitter
- PRTN3 p.Ser64Thr Uncertain significance Single submitter
- PRTN3 p.Trp157Gly Uncertain significance Single submitter
- PRTN3 p.Tyr239His Uncertain significance Single submitter
- PRTN3 p.Val160Gly Uncertain significance Single submitter
- PRTN3 p.Val169Phe Uncertain significance Single submitter
- PRTN3 p.Val240Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PRTN3 p.Arg235Pro Uncertain significance Single submitter
- PRTN3 p.Arg235Trp Uncertain significance Single submitter
- PRTN3 p.Gly197Arg Uncertain significance Single submitter
- PRTN3 p.Leu18Met Uncertain significance Single submitter
- PRTN3 p.Pro230His Uncertain significance Single submitter
- PRTN3 p.Ser20Asn Uncertain significance Single submitter
- PRTN3 p.Val134Ile Uncertain significance Single submitter
- PRTN3 p.Val220Met Uncertain significance Single submitter
- PRTN3 p.Val83Met Uncertain significance Single submitter
All PRTN3 variants
Benign/Likely benign 1
- p.Val66= Multiple submitters
Likely benign 7
- p.Arg4Gln Multiple submitters
- p.Ala70= Single submitter
- p.Arg227Gly Single submitter
- p.Arg249His Single submitter
- p.Pro5= Single submitter
- p.Ser131Asn Single submitter
- p.Val90Leu Single submitter
Uncertain significance 38
- p.Ala103Val Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg227Cys Single submitter
- p.Arg227His Single submitter ⚠
- p.Arg235Pro Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg248His Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Asn174Ser Single submitter ⚠
- p.Asp164Ala Single submitter ⚠
- p.Cys72Tyr Single submitter ⚠
- p.Glu33Gln Single submitter ⚠
- p.Gly197Arg Single submitter ⚠
- p.Gly197Ser Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.His185Leu Single submitter ⚠
- p.His32Tyr Single submitter ⚠
- p.Leu18Met Single submitter ⚠
- p.Leu238Phe Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Lys253Asn Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro166Gln Single submitter ⚠
- p.Pro230His Single submitter ⚠
- p.Ser125Gly Single submitter ⚠
- p.Ser20Asn Single submitter ⚠
- p.Ser53Gly Single submitter ⚠
- p.Ser64Thr Single submitter ⚠
- p.Trp157Gly Single submitter ⚠
- p.Tyr239His Single submitter ⚠
- p.Val134Ile Single submitter ⚠
- p.Val160Gly Single submitter ⚠
- p.Val169Phe Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val236Ala Single submitter
- p.Val240Met Single submitter ⚠
- p.Val83Met Single submitter ⚠