SRP19 — 18 ClinVar variants
All ClinVar germline SRP19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Pathogenic · 3 Likely benign · 14 Uncertain significance
Full SRP19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRP19 p.Ala109Val Uncertain significance Single submitter
- SRP19 p.Arg74Cys Uncertain significance Single submitter
- SRP19 p.Cys53Tyr Uncertain significance Single submitter
- SRP19 p.Glu133Asp Uncertain significance Single submitter
- SRP19 p.Ile112Thr Uncertain significance Single submitter
- SRP19 p.Ile37Val Uncertain significance Single submitter
- SRP19 p.Lys139Arg Uncertain significance Single submitter
- SRP19 p.Met111Leu Uncertain significance Single submitter
- SRP19 p.Phe15Ser Uncertain significance Single submitter
- SRP19 p.Pro113Thr Uncertain significance Single submitter
- SRP19 p.Ser135Gly Uncertain significance Single submitter
- SRP19 p.Ser38Asn Uncertain significance Single submitter
- SRP19 p.Ser69Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All SRP19 variants
Pathogenic 1
- c.189+5G>A No assertion criteria Shwachman-Diamond syndrome 1
Uncertain significance 14
- p.Ala109Val Single submitter ⚠
- p.Arg74Cys Single submitter ⚠
- p.Cys53Tyr Single submitter ⚠
- p.Glu133Asp Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile37Val Single submitter ⚠
- p.Lys139Arg Single submitter ⚠
- p.Met111Leu Single submitter ⚠
- p.Phe15Ser Single submitter ⚠
- p.Pro113Thr Single submitter ⚠
- p.Ser135Gly Single submitter ⚠
- p.Ser38Asn Single submitter ⚠
- p.Ser69Ala Single submitter ⚠
- p.Thr117Ile Single submitter ⚠