DAP3 — 61 ClinVar variants
All ClinVar germline DAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Benign · 9 Likely benign · 48 Uncertain significance
Full DAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DAP3 p.Ala309Val Uncertain significance Single submitter
- DAP3 p.Arg320Gly Uncertain significance Single submitter
- DAP3 p.Arg393Gln Uncertain significance Single submitter
- DAP3 p.Arg50His Uncertain significance Single submitter
- DAP3 p.Arg86Leu Uncertain significance Single submitter
- DAP3 p.Asp149Asn Uncertain significance Single submitter
- DAP3 p.Asp238Val Uncertain significance Single submitter
- DAP3 p.Gln201Arg Uncertain significance Single submitter
- DAP3 p.Gln326His Uncertain significance Single submitter
- DAP3 p.Gln39Arg Uncertain significance Single submitter
- DAP3 p.Gln66Arg Uncertain significance Single submitter
- DAP3 p.Glu206Asp Uncertain significance Single submitter
- DAP3 p.His110Arg Uncertain significance Single submitter
- DAP3 p.His14Arg Uncertain significance Single submitter
- DAP3 p.His35Arg Uncertain significance Single submitter
- DAP3 p.Leu268Phe Uncertain significance Single submitter
- DAP3 p.Leu293Phe Uncertain significance Single submitter
- DAP3 p.Lys189Glu Uncertain significance Single submitter
- DAP3 p.Lys192Arg Uncertain significance Single submitter
- DAP3 p.Lys207Glu Uncertain significance Single submitter
- DAP3 p.Lys351Glu Uncertain significance Single submitter
- DAP3 p.Met24Thr Uncertain significance Single submitter
- DAP3 p.Pro18Leu Uncertain significance Single submitter
- DAP3 p.Pro221Ser Uncertain significance Single submitter
- DAP3 p.Pro281Arg Uncertain significance Single submitter
- DAP3 p.Pro325Ser Uncertain significance Single submitter
- DAP3 p.Pro372Leu Uncertain significance Single submitter
- DAP3 p.Pro388Arg Uncertain significance Single submitter
- DAP3 p.Pro45Leu Uncertain significance Single submitter
- DAP3 p.Thr186Ala Uncertain significance Single submitter
- DAP3 p.Thr231Lys Uncertain significance Single submitter
- DAP3 p.Tyr323Cys Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- DAP3 p.Arg20Cys Likely benign Multiple submitters
- DAP3 p.Ala239Gly Uncertain significance Single submitter
- DAP3 p.Ala267Gly Uncertain significance Single submitter
- DAP3 p.Ala322Val Uncertain significance Single submitter
- DAP3 p.Arg197Cys Uncertain significance Single submitter
- DAP3 p.Arg197His Uncertain significance Single submitter
- DAP3 p.Arg393Trp Uncertain significance Single submitter
- DAP3 p.Asn299Asp Uncertain significance Single submitter
- DAP3 p.Asn364Ser Uncertain significance Single submitter
- DAP3 p.Cys395Ser Uncertain significance Single submitter
- DAP3 p.Glu129Gln Uncertain significance Single submitter
- DAP3 p.Glu183Gln Uncertain significance Single submitter
- DAP3 p.Glu327Ala Uncertain significance Single submitter
-
DAP3 p.Glu392Lys
Likely pathogenic
Single submitter
Perrault syndrome 7
- DAP3 p.His291Gln Uncertain significance Single submitter
- DAP3 p.Ile122Met Uncertain significance Single submitter
- DAP3 p.Pro56Leu Uncertain significance Single submitter
- DAP3 p.Ser308Leu Likely benign Single submitter
-
DAP3 p.Thr132Ile
Uncertain significance
Single submitter
Perrault syndrome 1
All DAP3 variants
Pathogenic/Likely pathogenic 1
- p.Cys395Tyr No assertion criteria Perrault syndrome 7
Likely pathogenic 2
- p.Glu392Lys Single submitter Perrault syndrome 7 ⚠
- p.Leu380Arg Single submitter DAP3-related disorder
Benign 1
- p.Val240Phe Multiple submitters
Likely benign 9
- p.Arg20Cys Multiple submitters ⚠
- c.45+3G>A Single submitter
- p.Arg166Gln Single submitter
- p.Asn200= Single submitter
- p.Asn69Ser Single submitter
- p.Ile32Leu Single submitter
- p.Pro281Leu Single submitter
- p.Ser172Asn Single submitter
- p.Ser308Leu Single submitter ⚠
Uncertain significance 48
- p.Ala239Gly Single submitter ⚠
- p.Ala267Gly Single submitter ⚠
- p.Ala309Val Single submitter ⚠
- p.Ala322Val Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg320Gly Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg393Trp Single submitter ⚠
- p.Arg50His Single submitter ⚠
- p.Arg86Leu Single submitter ⚠
- p.Asn299Asp Single submitter ⚠
- p.Asn364Ser Single submitter ⚠
- p.Asp149Asn Single submitter ⚠
- p.Asp238Val Single submitter ⚠
- p.Cys395Ser Single submitter ⚠
- p.Gln201Arg Single submitter ⚠
- p.Gln326His Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Gln66Arg Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu183Gln Single submitter ⚠
- p.Glu206Asp Single submitter ⚠
- p.Glu327Ala Single submitter ⚠
- p.His110Arg Single submitter ⚠
- p.His14Arg Single submitter ⚠
- p.His291Gln Single submitter ⚠
- p.His35Arg Single submitter ⚠
- p.Ile122Met Single submitter ⚠
- p.Leu268Phe Single submitter ⚠
- p.Leu293Phe Single submitter ⚠
- p.Lys189Glu Single submitter ⚠
- p.Lys192Arg Single submitter ⚠
- p.Lys207Glu Single submitter ⚠
- p.Lys351Glu Single submitter ⚠
- p.Met24Thr Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro221Ser Single submitter ⚠
- p.Pro281Arg Single submitter ⚠
- p.Pro325Ser Single submitter ⚠
- p.Pro372Leu Single submitter ⚠
- p.Pro388Arg Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Thr132Ile Single submitter Perrault syndrome 1 ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr231Lys Single submitter ⚠
- p.Tyr323Cys Single submitter ⚠