RPN1 — 59 ClinVar variants
All ClinVar germline RPN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
4 Benign · 1 Likely benign · 54 Uncertain significance
Full RPN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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RPN1 p.His238Tyr
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- RPN1 p.Ala18Val Uncertain significance Single submitter
- RPN1 p.Ala255Val Uncertain significance Single submitter
- RPN1 p.Ala411Asp Uncertain significance Single submitter
- RPN1 p.Ala79Asp Uncertain significance Single submitter
- RPN1 p.Arg111Lys Uncertain significance Single submitter
- RPN1 p.Arg174His Uncertain significance Single submitter
- RPN1 p.Arg180Gln Uncertain significance Single submitter
- RPN1 p.Arg406Cys Uncertain significance Single submitter
- RPN1 p.Arg458Trp Uncertain significance Single submitter
- RPN1 p.Arg65Gln Uncertain significance Single submitter
- RPN1 p.Asn247Asp Uncertain significance Single submitter
- RPN1 p.Asn501Ser Uncertain significance Single submitter
- RPN1 p.Asp601Asn Uncertain significance Single submitter
- RPN1 p.Gln152His Uncertain significance Single submitter
- RPN1 p.Gln534His Uncertain significance Single submitter
- RPN1 p.Gln87Leu Uncertain significance Single submitter
- RPN1 p.Glu219Ala Uncertain significance Single submitter
- RPN1 p.Gly515Ser Uncertain significance Single submitter
- RPN1 p.Gly541Ser Uncertain significance Single submitter
- RPN1 p.Ile424Val Uncertain significance Single submitter
- RPN1 p.Leu526Phe Uncertain significance Single submitter
- RPN1 p.Leu577Pro Uncertain significance Single submitter
- RPN1 p.Lys108Glu Uncertain significance Single submitter
- RPN1 p.Lys176Arg Uncertain significance Single submitter
- RPN1 p.Lys89Arg Uncertain significance Single submitter
- RPN1 p.Met551Ile Uncertain significance Single submitter
- RPN1 p.Pro141Leu Uncertain significance Single submitter
- RPN1 p.Pro29Ser Uncertain significance Single submitter
- RPN1 p.Ser25Phe Uncertain significance Single submitter
- RPN1 p.Ser279Phe Uncertain significance Single submitter
- RPN1 p.Ser565Leu Uncertain significance Single submitter
- RPN1 p.Thr464Ser Uncertain significance Single submitter
- RPN1 p.Thr484Ser Uncertain significance Single submitter
- RPN1 p.Val155Met Uncertain significance Single submitter
- RPN1 p.Val256Leu Uncertain significance Single submitter
- RPN1 p.Val54Gly Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- RPN1 p.Ala120Thr Uncertain significance Single submitter
- RPN1 p.Ala51Gly Uncertain significance Single submitter
- RPN1 p.Ala525Pro Uncertain significance Single submitter
- RPN1 p.Arg193Ser Uncertain significance Single submitter
- RPN1 p.Asn220Ser Uncertain significance Single submitter
- RPN1 p.Asn299Ser Uncertain significance Single submitter
- RPN1 p.Asn33Ser Uncertain significance Single submitter
- RPN1 p.Asp543His Uncertain significance Single submitter
- RPN1 p.Phe112Leu Uncertain significance Single submitter
- RPN1 p.Pro118Ser Uncertain significance Single submitter
- RPN1 p.Thr168Ala Uncertain significance Single submitter
- RPN1 p.Thr429Met Uncertain significance Single submitter
- RPN1 p.Tyr447Cys Uncertain significance Single submitter
All RPN1 variants
Benign 4
- c.633+6C>T Multiple submitters
- p.Lys465Arg Multiple submitters
- p.Ser549= Multiple submitters
- p.Thr192= Multiple submitters
Likely benign 1
- p.Ile130Val Single submitter
Uncertain significance 54
- p.His238Tyr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Ala120Thr Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala411Asp Single submitter ⚠
- p.Ala51Gly Single submitter ⚠
- p.Ala525Pro Single submitter ⚠
- p.Ala79Asp Single submitter ⚠
- p.Arg111Lys Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg193Ser Single submitter ⚠
- p.Arg391Cys Single submitter
- p.Arg406Cys Single submitter ⚠
- p.Arg458Trp Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Asn159Asp Single submitter
- p.Asn220Ser Single submitter ⚠
- p.Asn247Asp Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asn501Ser Single submitter ⚠
- p.Asp543His Single submitter ⚠
- p.Asp601Asn Single submitter ⚠
- p.Gln152His Single submitter ⚠
- p.Gln534His Single submitter ⚠
- p.Gln87Leu Single submitter ⚠
- p.Glu219Ala Single submitter ⚠
- p.Gly515Ser Single submitter ⚠
- p.Gly541Ser Single submitter ⚠
- p.Ile424Val Single submitter ⚠
- p.Leu526Phe Single submitter ⚠
- p.Leu577Pro Single submitter ⚠
- p.Lys108Glu Single submitter ⚠
- p.Lys176Arg Single submitter ⚠
- p.Lys465Gln Single submitter
- p.Lys89Arg Single submitter ⚠
- p.Met551Ile Single submitter ⚠
- p.Phe112Leu Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Pro141Leu Single submitter ⚠
- p.Pro29Ser Single submitter ⚠
- p.Ser25Phe Single submitter ⚠
- p.Ser276Cys Single submitter
- p.Ser279Phe Single submitter ⚠
- p.Ser565Leu Single submitter ⚠
- p.Thr168Ala Single submitter ⚠
- p.Thr429Met Single submitter ⚠
- p.Thr464Ser Single submitter ⚠
- p.Thr484Ser Single submitter ⚠
- p.Tyr447Cys Single submitter ⚠
- p.Val155Met Single submitter ⚠
- p.Val256Leu Single submitter ⚠
- p.Val54Gly Single submitter ⚠