RPP30 — 33 ClinVar variants
All ClinVar germline RPP30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Likely benign · 30 Uncertain significance
Full RPP30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPP30 p.Ala159Pro Uncertain significance Single submitter
- RPP30 p.Ala217Ser Uncertain significance Single submitter
- RPP30 p.Ala217Thr Uncertain significance Single submitter
- RPP30 p.Ala227Thr Uncertain significance Single submitter
- RPP30 p.Arg235Gly Uncertain significance Single submitter
- RPP30 p.Arg76Ser Uncertain significance Single submitter
- RPP30 p.Asn175His Uncertain significance Single submitter
- RPP30 p.Asn224Ser Uncertain significance Single submitter
- RPP30 p.Asn36Tyr Uncertain significance Single submitter
- RPP30 p.Asn88Ser Uncertain significance Single submitter
- RPP30 p.Glu49Lys Uncertain significance Single submitter
- RPP30 p.Gly207Ala Uncertain significance Single submitter
- RPP30 p.Gly207Asp Uncertain significance Single submitter
- RPP30 p.Ile146Val Uncertain significance Single submitter
- RPP30 p.Leu154Phe Uncertain significance Single submitter
- RPP30 p.Lys132Arg Uncertain significance Single submitter
- RPP30 p.Met165Val Uncertain significance Single submitter
- RPP30 p.Phe113Ser Uncertain significance Single submitter
- RPP30 p.Pro134Ser Uncertain significance Single submitter
- RPP30 p.Pro140Ser Uncertain significance Single submitter
- RPP30 p.Ser82Leu Uncertain significance Single submitter
- RPP30 p.Val81Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- RPP30 p.Arg166Lys Uncertain significance Single submitter
- RPP30 p.Lys236Gln Uncertain significance Single submitter
- RPP30 p.Lys44Asn Uncertain significance Single submitter
- RPP30 p.Met177Ile Uncertain significance Single submitter
- RPP30 p.Phe239Leu Uncertain significance Single submitter
- RPP30 p.Val155Asp Uncertain significance Single submitter
All RPP30 variants
Likely benign 3
- p.Ala11Val Single submitter
- p.Ala228Val Single submitter
- p.His231= Single submitter
Uncertain significance 30
- p.Ala159Pro Single submitter ⚠
- p.Ala217Ser Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Arg148Gln Single submitter
- p.Arg166Lys Single submitter ⚠
- p.Arg235Gly Single submitter ⚠
- p.Arg76Ser Single submitter ⚠
- p.Asn175His Single submitter ⚠
- p.Asn224Ser Single submitter ⚠
- p.Asn36Tyr Single submitter ⚠
- p.Asn88Ser Single submitter ⚠
- p.Glu49Lys Single submitter ⚠
- p.Gly207Ala Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Lys132Arg Single submitter ⚠
- p.Lys236Gln Single submitter ⚠
- p.Lys44Asn Single submitter ⚠
- p.Met165Val Single submitter ⚠
- p.Met177Ile Single submitter ⚠
- p.Phe113Ser Single submitter ⚠
- p.Phe239Leu Single submitter ⚠
- p.Pro134Ser Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Ser82Leu Single submitter ⚠
- p.Tyr168Cys Single submitter
- p.Val155Asp Single submitter ⚠
- p.Val81Ile Single submitter ⚠