SRPRA — 21 ClinVar variants
All ClinVar germline SRPRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Pathogenic · 1 Benign · 6 Likely benign · 13 Uncertain significance
Full SRPRA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRPRA p.Ala459Val Uncertain significance Single submitter
- SRPRA p.Arg246Trp Uncertain significance Single submitter
- SRPRA p.Arg458Gly Uncertain significance Single submitter
- SRPRA p.Asn267Ser Uncertain significance Single submitter
- SRPRA p.Asn44Lys Uncertain significance Single submitter
- SRPRA p.Gly224Asp Uncertain significance Single submitter
- SRPRA p.Ile451Thr Uncertain significance Single submitter
- SRPRA p.Ser473Arg Uncertain significance Single submitter
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SRPRA p.His573Tyr
Uncertain significance
No assertion criteria
SRPRA-related disorder
Predictors split 3
The independent predictors disagree with each other — read with care.
All SRPRA variants
Pathogenic 1
- p.Gln464Glu No assertion criteria Shwachman-Diamond syndrome 1
Benign 1
- p.Gly483Asp Single submitter ⚠
Likely benign 6
Uncertain significance 13
- c.1312-1G>A Single submitter
- p.Ala459Val Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg458Gly Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Asn44Lys Single submitter ⚠
- p.Gln101_Ala103delinsHis Single submitter SRPRA-related disorder
- p.Gly224Asp Single submitter ⚠
- p.Ile451Thr Single submitter ⚠
- p.Lys565Asn Single submitter ⚠
- p.Ser473Arg Single submitter ⚠
- p.Gly483Ser No assertion criteria SRPRA-related disorder ⚠
- p.His573Tyr No assertion criteria SRPRA-related disorder ⚠