PDIA3 — 78 ClinVar variants
All ClinVar germline PDIA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Conflicting · 15 Benign · 5 Likely benign · 57 Uncertain significance
Full PDIA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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PDIA3 p.Cys57Tyr
Conflicting
No assertion criteria
intellectual disability
Predictors lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDIA3 p.Ala135Pro Uncertain significance Single submitter
- PDIA3 p.Ala17Ser Uncertain significance Single submitter
- PDIA3 p.Ala185Thr Uncertain significance Single submitter
- PDIA3 p.Ala221Thr Uncertain significance Single submitter
- PDIA3 p.Arg2His Uncertain significance Single submitter
- PDIA3 p.Arg2Leu Uncertain significance Single submitter
- PDIA3 p.Arg4Cys Uncertain significance Single submitter
- PDIA3 p.Asn93Ser Uncertain significance Single submitter
- PDIA3 p.Asp26Ala Uncertain significance Single submitter
- PDIA3 p.Asp292Glu Uncertain significance Single submitter
- PDIA3 p.Asp440Asn Uncertain significance Single submitter
- PDIA3 p.Glu310Asp Uncertain significance Single submitter
- PDIA3 p.Glu36Lys Uncertain significance Single submitter
- PDIA3 p.Glu384Gly Uncertain significance Single submitter
- PDIA3 p.Gly117Arg Uncertain significance Single submitter
- PDIA3 p.Gly11Val Uncertain significance Single submitter
- PDIA3 p.Gly46Ala Uncertain significance Single submitter
- PDIA3 p.His127Leu Uncertain significance Single submitter
- PDIA3 p.His210Arg Uncertain significance Single submitter
- PDIA3 p.Ile328Val Uncertain significance Single submitter
- PDIA3 p.Ile453Val Uncertain significance Single submitter
- PDIA3 p.Leu254Met Uncertain significance Single submitter
- PDIA3 p.Leu49Val Uncertain significance Single submitter
- PDIA3 p.Leu63Phe Uncertain significance Single submitter
- PDIA3 p.Lys152Arg Uncertain significance Single submitter
- PDIA3 p.Lys460Arg Uncertain significance Single submitter
- PDIA3 p.Lys500Glu Uncertain significance Single submitter
- PDIA3 p.Lys500Thr Uncertain significance Single submitter
- PDIA3 p.Met48Leu Uncertain significance Single submitter
- PDIA3 p.Pro138His Uncertain significance Single submitter
- PDIA3 p.Pro371Ala Uncertain significance Single submitter
- PDIA3 p.Pro495Thr Uncertain significance Single submitter
- PDIA3 p.Ser126Asn Uncertain significance Single submitter
- PDIA3 p.Ser165Asn Uncertain significance Single submitter
- PDIA3 p.Ser209Ala Uncertain significance Single submitter
- PDIA3 p.Thr223Lys Uncertain significance Single submitter
- PDIA3 p.Thr248Ala Uncertain significance Single submitter
- PDIA3 p.Thr72Ser Uncertain significance Single submitter
- PDIA3 p.Val27Met Uncertain significance Single submitter
- PDIA3 p.Val325Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- PDIA3 p.Arg304Cys Uncertain significance Single submitter
- PDIA3 p.Asn385Ser Uncertain significance Single submitter
- PDIA3 p.Asp259Glu Uncertain significance Single submitter
- PDIA3 p.Asp33Tyr Uncertain significance Single submitter
- PDIA3 p.Gly275Ser Uncertain significance Single submitter
- PDIA3 p.Ile255Thr Uncertain significance Single submitter
- PDIA3 p.Ile453Met Uncertain significance Single submitter
- PDIA3 p.Lys395Thr Uncertain significance Single submitter
- PDIA3 p.Met284Thr Uncertain significance Single submitter
- PDIA3 p.Phe290Leu Uncertain significance Single submitter
- PDIA3 p.Phe357Leu Uncertain significance Single submitter
- PDIA3 p.Thr89Ile Uncertain significance Single submitter
- PDIA3 p.Val125Ile Uncertain significance Single submitter
- PDIA3 p.Val441Ala Uncertain significance Single submitter
All PDIA3 variants
Conflicting classifications of pathogenicity 1
- p.Cys57Tyr No assertion criteria intellectual disability ⚠
Benign 15
- c.1137+88C>T Multiple submitters
- c.1404+96A>T Multiple submitters
- c.365-5C>T Multiple submitters
- c.472+158A>G Multiple submitters
- p.Ala54= Multiple submitters
- p.His408= Multiple submitters
- c.1028+214T>C Single submitter
- c.1029-252T>C Single submitter
- c.168-9C>T Single submitter
- c.845+122dup Single submitter
- c.845+141del Single submitter
- c.846-292G>C Single submitter
- p.Ala19Val Single submitter
- p.Val286= Single submitter
- p.Asn486= No assertion criteria PDIA3-related disorder
Likely benign 5
- p.Asn272= Single submitter
- p.Glu190Lys Single submitter
- c.472+7A>G No assertion criteria PDIA3-related disorder
- c.603-5_603-4dup No assertion criteria PDIA3-related disorder
- p.Gly420= No assertion criteria PDIA3-related disorder
Uncertain significance 57
- p.Ala135Pro Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala185Thr Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Arg2His Single submitter ⚠
- p.Arg2Leu Single submitter ⚠
- p.Arg304Cys Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Asn385Ser Single submitter ⚠
- p.Asn93Ser Single submitter ⚠
- p.Asp259Glu Single submitter ⚠
- p.Asp26Ala Single submitter ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp33Tyr Single submitter ⚠
- p.Asp440Asn Single submitter ⚠
- p.Glu310Asp Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Glu384Gly Single submitter ⚠
- p.Gly113Val Single submitter
- p.Gly117Arg Single submitter ⚠
- p.Gly11Val Single submitter ⚠
- p.Gly275Ser Single submitter ⚠
- p.Gly46Ala Single submitter ⚠
- p.His127Leu Single submitter ⚠
- p.His210Arg Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Ile328Val Single submitter ⚠
- p.Ile453Met Single submitter ⚠
- p.Ile453Val Single submitter ⚠
- p.Leu103Val Single submitter
- p.Leu254Met Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Lys152Arg Single submitter ⚠
- p.Lys395Thr Single submitter ⚠
- p.Lys460Arg Single submitter ⚠
- p.Lys500Glu Single submitter ⚠
- p.Lys500Thr Single submitter ⚠
- p.Met284Thr Single submitter ⚠
- p.Met48Leu Single submitter ⚠
- p.Phe290Leu Single submitter ⚠
- p.Phe357Leu Single submitter ⚠
- p.Pro138His Single submitter ⚠
- p.Pro371Ala Single submitter ⚠
- p.Pro495Thr Single submitter ⚠
- p.Ser126Asn Single submitter ⚠
- p.Ser165Asn Single submitter ⚠
- p.Ser209Ala Single submitter ⚠
- p.Thr223Lys Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr72Ser Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Tyr95His Single submitter
- p.Val125Ile Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Val325Leu Single submitter ⚠
- p.Val441Ala Single submitter ⚠