RIPPLY1 — 22 ClinVar variants
All ClinVar germline RIPPLY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Conflicting · 3 Benign · 3 Likely benign · 15 Uncertain significance
Full RIPPLY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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.
Predictors lean, ClinVar uncertain 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIPPLY1 p.Ala85Val Uncertain significance Single submitter
- RIPPLY1 p.Ala90Thr Uncertain significance Single submitter
- RIPPLY1 p.Arg106Cys Uncertain significance Single submitter
- RIPPLY1 p.Asp147Val Uncertain significance Single submitter
- RIPPLY1 p.Gln145Glu Uncertain significance Single submitter
- RIPPLY1 p.Glu86Lys Uncertain significance Single submitter
- RIPPLY1 p.His95Gln Uncertain significance Single submitter
- RIPPLY1 p.Pro103Leu Uncertain significance Single submitter
- RIPPLY1 p.Pro32Thr Uncertain significance Single submitter
- RIPPLY1 p.Pro37Gln Uncertain significance Single submitter
- RIPPLY1 p.Ser3Phe Uncertain significance Single submitter
- RIPPLY1 p.Thr83Met Uncertain significance Single submitter
- RIPPLY1 p.Thr88Asn Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All RIPPLY1 variants
Conflicting classifications of pathogenicity 1
- p.Asn121Ser Single submitter ⚠
Benign 3
- p.Ala90Val Multiple submitters
- p.Thr83= Multiple submitters
- p.Tyr131= Multiple submitters
Likely benign 3
- p.Ser3Pro Single submitter
- p.Leu111= No assertion criteria RIPPLY1-related disorder
- p.Ser63Tyr No assertion criteria RIPPLY1-related disorder
Uncertain significance 15
- p.Ala85Val Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg106Cys Single submitter ⚠
- p.Asp147Val Single submitter ⚠
- p.Gln145Glu Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.His95Gln Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro32Thr Single submitter ⚠
- p.Pro37Gln Single submitter ⚠
- p.Ser136Cys Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Thr83Met Single submitter ⚠
- p.Thr88Asn Single submitter ⚠