RRP1B — 93 ClinVar variants

All ClinVar germline RRP1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

1 Conflicting · 3 Benign · 10 Likely benign · 79 Uncertain significance

Full RRP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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.

RRP1B p.Ala89Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 67

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 11

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

All RRP1B variants

Conflicting classifications of pathogenicity 1

p.Ala89Val Single submitter ⚠

Benign 3

p.Leu631Pro Multiple submitters
p.Val82= Multiple submitters
c.358-8T>A Single submitter

Likely benign 10

p.Arg567Cys Single submitter
p.Asp205= Single submitter
p.Asp716Asn Single submitter
p.Gln519= Single submitter
p.Gly418Asp Single submitter
p.Leu439Pro Single submitter
p.Met468Thr Single submitter
p.Pro502Leu Single submitter
p.Val387Ala Single submitter
p.Val491Ala Single submitter

Uncertain significance 79

p.Thr708Met Multiple submitters ⚠
p.Ala346Val Single submitter ⚠
p.Ala490Val Single submitter ⚠
p.Ala575Val Single submitter ⚠
p.Ala671Asp Single submitter ⚠
p.Ala671Ser Single submitter ⚠
p.Arg104Gln Single submitter ⚠
p.Arg113His Single submitter ⚠
p.Arg134Gln Single submitter ⚠
p.Arg134Gly Single submitter ⚠
p.Arg141Gln Single submitter ⚠
p.Arg214Gln Single submitter ⚠
p.Arg258Gly Single submitter ⚠
p.Arg281Lys Single submitter ⚠
p.Arg306Gln Single submitter ⚠
p.Arg323Cys Single submitter ⚠
p.Arg323His Single submitter ⚠
p.Arg399Ser Single submitter ⚠
p.Arg427Trp Single submitter ⚠
p.Arg442His Single submitter ⚠
p.Arg474Trp Single submitter ⚠
p.Arg476Gln Single submitter ⚠
p.Arg476Trp Single submitter ⚠
p.Arg525Trp Single submitter ⚠
p.Asn559Ser Single submitter ⚠
p.Asp110Gly Single submitter ⚠
p.Asp115Asn Single submitter ⚠
p.Asp174Asn Single submitter ⚠
p.Asp187Gly Single submitter ⚠
p.Asp205Asn Single submitter ⚠
p.Asp333Asn Single submitter ⚠
p.Asp333Tyr Single submitter ⚠
p.Asp355Glu Single submitter ⚠
p.Asp641Asn Single submitter ⚠
p.Gln223Arg Single submitter ⚠
p.Gln48Glu Single submitter ⚠
p.Glu105Asp Single submitter ⚠
p.Glu105Gly Single submitter ⚠
p.Glu432Lys Single submitter ⚠
p.Glu461Lys Single submitter ⚠
p.Glu495Val Single submitter ⚠
p.Gly287Arg Single submitter ⚠
p.Gly517Arg Single submitter ⚠
p.Gly517Glu Single submitter ⚠
p.Gly553Asp Single submitter ⚠
p.Gly687Arg Single submitter ⚠
p.Ile54Met Single submitter
p.Leu244Val Single submitter ⚠
p.Leu343Val Single submitter ⚠
p.Leu436Val Single submitter ⚠
p.Leu570Met Single submitter ⚠
p.Leu654Arg Single submitter ⚠
p.Lys262Arg Single submitter ⚠
p.Lys329Gln Single submitter ⚠
p.Lys406Gln Single submitter ⚠
p.Met119Thr Single submitter ⚠
p.Phe226Leu Single submitter ⚠
p.Pro250Thr Single submitter ⚠
p.Pro414Arg Single submitter ⚠
p.Pro475Ser Single submitter ⚠
p.Pro493Thr Single submitter ⚠
p.Pro494Ala Single submitter ⚠
p.Pro565Thr Single submitter ⚠
p.Pro651Ala Single submitter ⚠
p.Pro737Thr Single submitter ⚠
p.Ser339Arg Single submitter ⚠
p.Ser339Asn Single submitter ⚠
p.Ser640Gly Single submitter ⚠
p.Ser731Arg Single submitter ⚠
p.Thr231Met Single submitter ⚠
p.Thr539Met Single submitter ⚠
p.Thr539Ser Single submitter ⚠
p.Thr562Ser Single submitter ⚠
p.Thr665Ile Single submitter ⚠
p.Thr677Ala Single submitter ⚠
p.Tyr300Cys Single submitter ⚠
p.Val466Ile Single submitter ⚠
p.Val643Leu Single submitter ⚠
p.Val739Leu Single submitter ⚠