S1PR3 — 55 ClinVar variants
All ClinVar germline S1PR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Likely benign · 53 Uncertain significance
Full S1PR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- S1PR3 c.-148+289A>G Uncertain significance Single submitter
- S1PR3 c.-226G>A Uncertain significance Single submitter
- S1PR3 p.Ala230Val Uncertain significance Single submitter
- S1PR3 p.Ala254Thr Uncertain significance Single submitter
- S1PR3 p.Arg136Gln Uncertain significance Single submitter
- S1PR3 p.Arg13Leu Uncertain significance Single submitter
- S1PR3 p.Arg227Cys Uncertain significance Single submitter
- S1PR3 p.Arg270Ser Uncertain significance Single submitter
- S1PR3 p.Arg311Gly Uncertain significance Single submitter
- S1PR3 p.Arg311His Uncertain significance Single submitter
- S1PR3 p.Arg321Pro Uncertain significance Single submitter
- S1PR3 p.Arg321Trp Uncertain significance Single submitter
- S1PR3 p.Arg73Cys Uncertain significance Single submitter
- S1PR3 p.Arg8His Uncertain significance Single submitter
- S1PR3 p.Asn149Ser Uncertain significance Single submitter
- S1PR3 p.Asp147Asn Uncertain significance Single submitter
- S1PR3 p.Asp333Tyr Uncertain significance Single submitter
- S1PR3 p.Asp366Glu Uncertain significance Single submitter
- S1PR3 p.Asp366Gly Uncertain significance Single submitter
- S1PR3 p.Cys269Tyr Uncertain significance Single submitter
- S1PR3 p.Cys377Arg Uncertain significance Single submitter
- S1PR3 p.Glu20Lys Uncertain significance Single submitter
- S1PR3 p.Gly320Glu Uncertain significance Single submitter
- S1PR3 p.Gly322Arg Uncertain significance Single submitter
- S1PR3 p.His180Tyr Uncertain significance Single submitter
- S1PR3 p.Ile197Thr Uncertain significance Single submitter
- S1PR3 p.Ile201Val Uncertain significance Single submitter
- S1PR3 p.Leu41His Uncertain significance Single submitter
- S1PR3 p.Leu47Phe Uncertain significance Single submitter
- S1PR3 p.Lys223Arg Uncertain significance Single submitter
- S1PR3 p.Met160Ile Uncertain significance Single submitter
- S1PR3 p.Met365Leu Uncertain significance Single submitter
- S1PR3 p.Met365Val Uncertain significance Single submitter
- S1PR3 p.Met98Lys Uncertain significance Single submitter
- S1PR3 p.Pro11Leu Uncertain significance Single submitter
- S1PR3 p.Pro330Leu Uncertain significance Single submitter
- S1PR3 p.Pro349Gln Uncertain significance Single submitter
- S1PR3 p.Pro360Leu Uncertain significance Single submitter
- S1PR3 p.Ser235Leu Uncertain significance Single submitter
- S1PR3 p.Ser362Phe Uncertain significance Single submitter
- S1PR3 p.Val318Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- S1PR3 c.-148+196C>T Uncertain significance Single submitter
- S1PR3 p.Arg153Cys Uncertain significance Single submitter
- S1PR3 p.Arg307Trp Uncertain significance Single submitter
- S1PR3 p.Ile218Val Uncertain significance Single submitter
- S1PR3 p.Leu61Phe Uncertain significance Single submitter
- S1PR3 p.Lys223Asn Uncertain significance Single submitter
All S1PR3 variants
Likely benign 2
- p.Arg13Pro Single submitter
- p.Asn231Ser Single submitter
Uncertain significance 53
- c.-148+196C>T Single submitter ⚠
- c.-148+289A>G Single submitter ⚠
- c.-226G>A Single submitter ⚠
- p.Ala230Val Single submitter ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala292Thr Single submitter
- p.Arg136Gln Single submitter ⚠
- p.Arg13Leu Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg237Trp Single submitter
- p.Arg270Ser Single submitter ⚠
- p.Arg306Gln Single submitter
- p.Arg307Trp Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg311His Single submitter ⚠
- p.Arg321Pro Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp333Tyr Single submitter ⚠
- p.Asp366Glu Single submitter ⚠
- p.Asp366Gly Single submitter ⚠
- p.Cys269Tyr Single submitter ⚠
- p.Cys377Arg Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Gly320Glu Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.His180Tyr Single submitter ⚠
- p.Ile197Thr Single submitter ⚠
- p.Ile201Val Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Leu41His Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu61Phe Single submitter ⚠
- p.Lys223Arg Single submitter ⚠
- p.Lys223Asn Single submitter ⚠
- p.Met160Ile Single submitter ⚠
- p.Met365Leu Single submitter ⚠
- p.Met365Val Single submitter ⚠
- p.Met98Lys Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro349Gln Single submitter ⚠
- p.Pro360Leu Single submitter ⚠
- p.Ser235Leu Single submitter ⚠
- p.Ser362Phe Single submitter ⚠
- p.Thr299Met Single submitter
- p.Tyr196Phe Single submitter
- p.Tyr219Cys Single submitter
- p.Val318Leu Single submitter ⚠