SNRPA — 39 ClinVar variants
All ClinVar germline SNRPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
2 Likely pathogenic · 2 Benign · 5 Likely benign · 30 Uncertain significance
Full SNRPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SNRPA p.Ala150Val Uncertain significance Single submitter
- SNRPA p.Arg108Gln Uncertain significance Single submitter
- SNRPA p.Asn16Ser Uncertain significance Single submitter
- SNRPA p.Asn253Ser Uncertain significance Single submitter
- SNRPA p.Gln189Glu Uncertain significance Single submitter
- SNRPA p.Gly129Val Uncertain significance Single submitter
- SNRPA p.Gly135Ala Uncertain significance Single submitter
- SNRPA p.His155Gln Uncertain significance Single submitter
- SNRPA p.Leu17Pro Uncertain significance Single submitter
- SNRPA p.Met169Val Uncertain significance Single submitter
- SNRPA p.Pro146Leu Uncertain significance Single submitter
- SNRPA p.Pro81Arg Uncertain significance Single submitter
- SNRPA p.Ser202Ala Uncertain significance Single submitter
- SNRPA p.Thr131Ser Uncertain significance Single submitter
- SNRPA p.Val255Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SNRPA p.Arg106Cys Uncertain significance Single submitter
- SNRPA p.Arg106His Uncertain significance Single submitter
- SNRPA p.Arg108Trp Uncertain significance Single submitter
- SNRPA p.Arg47Gln Uncertain significance Single submitter
- SNRPA p.Asn204Lys Uncertain significance Single submitter
- SNRPA p.Gln256His Uncertain significance Single submitter
- SNRPA p.Gln39His Uncertain significance Single submitter
- SNRPA p.Gly128Arg Uncertain significance Single submitter
- SNRPA p.Gly168Arg Uncertain significance Single submitter
-
SNRPA p.Ile33Val
Likely benign
Single submitter
Spliceosomepathy
- SNRPA p.Met97Thr Uncertain significance Single submitter
- SNRPA p.Pro119Leu Uncertain significance Single submitter
- SNRPA p.Pro166His Uncertain significance Single submitter
- SNRPA p.Pro172Leu Uncertain significance Single submitter
- SNRPA p.Val102Met Uncertain significance Single submitter
All SNRPA variants
Likely pathogenic 2
- p.Ile33Thr Single submitter Spliceosomepathy
- p.Phe34Ile Single submitter Spliceosomepathy
Likely benign 5
- p.Ile33Val Single submitter Spliceosomepathy ⚠
- c.690-12_690-7del No assertion criteria SNRPA-related disorder
- p.Ala150= No assertion criteria SNRPA-related disorder
- p.Asn273= No assertion criteria SNRPA-related disorder
- p.Pro241= No assertion criteria SNRPA-related disorder
Uncertain significance 30
- p.Ala150Val Single submitter ⚠
- p.Arg106Cys Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Asn16Ser Single submitter ⚠
- p.Asn204Lys Single submitter ⚠
- p.Asn214Ser Single submitter
- p.Asn253Ser Single submitter ⚠
- p.Gln189Glu Single submitter ⚠
- p.Gln256His Single submitter ⚠
- p.Gln39His Single submitter ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly129Val Single submitter ⚠
- p.Gly135Ala Single submitter ⚠
- p.Gly168Arg Single submitter ⚠
- p.His155Gln Single submitter ⚠
- p.Leu17Pro Single submitter ⚠
- p.Met169Val Single submitter ⚠
- p.Met97Thr Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro166His Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro81Arg Single submitter ⚠
- p.Ser202Ala Single submitter ⚠
- p.Thr131Ser Single submitter ⚠
- p.Val102Met Single submitter ⚠
- p.Val255Ile Single submitter ⚠