DPPA5 — 16 ClinVar variants
All ClinVar germline DPPA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
16 Uncertain significance
Full DPPA5 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 lean, ClinVar uncertain 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DPPA5 p.Asn107Lys Uncertain significance Single submitter
- DPPA5 p.Leu78Val Uncertain significance Single submitter
- DPPA5 p.Lys101Arg Uncertain significance Single submitter
- DPPA5 p.Lys101Gln Uncertain significance Single submitter
- DPPA5 p.Pro12Ser Uncertain significance Single submitter
- DPPA5 p.Tyr76Cys Uncertain significance Single submitter
- DPPA5 p.Val28Ile Uncertain significance Single submitter
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DPPA5 p.Gly72Ser
Uncertain significance
No assertion criteria
Hirschsprung disease
Predictors split 8
The independent predictors disagree with each other — read with care.
- DPPA5 p.Ala108Gly Uncertain significance Single submitter
- DPPA5 p.Arg43Gly Uncertain significance Single submitter
- DPPA5 p.Arg92His Uncertain significance Single submitter
- DPPA5 p.Arg94His Uncertain significance Single submitter
- DPPA5 p.Leu109Pro Uncertain significance Single submitter
- DPPA5 p.Pro39Leu Uncertain significance Single submitter
- DPPA5 p.Ser86Pro Uncertain significance Single submitter
- DPPA5 p.Val28Gly Uncertain significance Single submitter
All DPPA5 variants
Uncertain significance 16
- p.Ala108Gly Single submitter ⚠
- p.Arg43Gly Single submitter ⚠
- p.Arg92His Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn107Lys Single submitter ⚠
- p.Leu109Pro Single submitter ⚠
- p.Leu78Val Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Lys101Gln Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Ser86Pro Single submitter ⚠
- p.Tyr76Cys Single submitter ⚠
- p.Val28Gly Single submitter ⚠
- p.Val28Ile Single submitter ⚠
- p.Gly72Ser No assertion criteria Hirschsprung disease ⚠