DDX53 — 111 ClinVar variants
All ClinVar germline DDX53 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
2 Likely pathogenic · 1 Conflicting · 11 Benign · 14 Likely benign · 83 Uncertain significance
Full DDX53 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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.
- DDX53 p.Ala11Gly Uncertain significance Single submitter
- DDX53 p.Arg10Thr Uncertain significance Single submitter
- DDX53 p.Arg333Lys Uncertain significance Single submitter
- DDX53 p.Arg508Gln Uncertain significance Single submitter
- DDX53 p.Asn141Lys Uncertain significance Single submitter
- DDX53 p.Asn195Ser Uncertain significance Single submitter
- DDX53 p.Asp17Gly Uncertain significance Single submitter
- DDX53 p.Asp486Asn Uncertain significance Single submitter
- DDX53 p.Asp535Gly Uncertain significance Single submitter
- DDX53 p.Cys163Tyr Uncertain significance Single submitter
- DDX53 p.Gln116Glu Uncertain significance Single submitter
- DDX53 p.Gln249Lys Uncertain significance Single submitter
- DDX53 p.Gln573Lys Uncertain significance Single submitter
- DDX53 p.Glu122Ala Uncertain significance Single submitter
- DDX53 p.Glu452Gly Uncertain significance Single submitter
- DDX53 p.Gly26Ser Uncertain significance Single submitter
- DDX53 p.Gly580Asp Uncertain significance Single submitter
- DDX53 p.Gly621Arg Uncertain significance Single submitter
- DDX53 p.Ile237Val Uncertain significance Single submitter
- DDX53 p.Ile263Val Uncertain significance Single submitter
- DDX53 p.Ile289Val Uncertain significance Single submitter
- DDX53 p.Lys198Asn Uncertain significance Single submitter
- DDX53 p.Met191Val Uncertain significance Single submitter
- DDX53 p.Met464Ile Uncertain significance Single submitter
- DDX53 p.Met578Val Uncertain significance Single submitter
- DDX53 p.Pro49Leu Uncertain significance Single submitter
- DDX53 p.Ser504Thr Uncertain significance Single submitter
- DDX53 p.Trp22Cys Uncertain significance Single submitter
- DDX53 p.Trp32Cys Uncertain significance Single submitter
- DDX53 p.Val430Ile Uncertain significance Single submitter
- DDX53 p.Val438Ala Uncertain significance Single submitter
- DDX53 p.Val550Ile Uncertain significance Single submitter
Predictors split 52
The independent predictors disagree with each other — read with care.
- DDX53 p.Gly499Val Benign Multiple submitters
- DDX53 p.Ala437Val Uncertain significance Single submitter
- DDX53 p.Ala480Ser Uncertain significance Single submitter
- DDX53 p.Ala494Val Likely benign Single submitter
- DDX53 p.Ala579Val Uncertain significance Single submitter
- DDX53 p.Arg214His Uncertain significance Single submitter
- DDX53 p.Arg25Met Uncertain significance Single submitter
- DDX53 p.Arg415Cys Uncertain significance Single submitter
- DDX53 p.Arg415His Uncertain significance Single submitter
- DDX53 p.Arg560Gly Uncertain significance Single submitter
- DDX53 p.Asn334Lys Uncertain significance Single submitter
- DDX53 p.Asn434Tyr Uncertain significance Single submitter
- DDX53 p.Asn541Thr Uncertain significance Single submitter
- DDX53 p.Asp261Asn Uncertain significance Single submitter
- DDX53 p.Asp412His Uncertain significance Single submitter
- DDX53 p.Asp512Ala Uncertain significance Single submitter
- DDX53 p.Asp575Gly Uncertain significance Single submitter
- DDX53 p.Asp73His Uncertain significance Single submitter
- DDX53 p.Cys52Phe Uncertain significance Single submitter
- DDX53 p.Glu459Gly Uncertain significance Single submitter
- DDX53 p.Gly241Glu Uncertain significance Single submitter
- DDX53 p.Gly271Glu Uncertain significance Single submitter
- DDX53 p.Gly332Asp Uncertain significance Single submitter
- DDX53 p.Gly516Arg Uncertain significance Single submitter
- DDX53 p.Gly565Ser Uncertain significance Single submitter
- DDX53 p.Gly87Ala Uncertain significance Single submitter
- DDX53 p.Gly87Trp Uncertain significance Single submitter
- DDX53 p.Ile526Arg Uncertain significance Single submitter
- DDX53 p.Ile526Thr Uncertain significance Single submitter
- DDX53 p.Ile82Leu Uncertain significance Single submitter
- DDX53 p.Leu417Gln Uncertain significance Single submitter
- DDX53 p.Lys453Asn Uncertain significance Single submitter
- DDX53 p.Met188Ile Uncertain significance Single submitter
- DDX53 p.Phe386Ser Uncertain significance Single submitter
- DDX53 p.Phe513Leu Uncertain significance Single submitter
- DDX53 p.Phe96Ser Uncertain significance Single submitter
- DDX53 p.Pro217Ser Uncertain significance Single submitter
- DDX53 p.Pro219Leu Uncertain significance Single submitter
- DDX53 p.Pro245Leu Uncertain significance Single submitter
- DDX53 p.Pro388Ala Uncertain significance Single submitter
- DDX53 p.Pro50Ser Uncertain significance Single submitter
- DDX53 p.Ser186Arg Uncertain significance Single submitter
- DDX53 p.Ser27Asn Conflicting Single submitter
- DDX53 p.Ser2Phe Uncertain significance Single submitter
- DDX53 p.Ser369Arg Uncertain significance Single submitter
- DDX53 p.Thr524Ala Uncertain significance Single submitter
- DDX53 p.Val414Ala Uncertain significance Single submitter
- DDX53 p.Val568Phe Uncertain significance Single submitter
-
DDX53 p.Arg214Cys
Likely benign
No assertion criteria
DDX53-related disorder
-
DDX53 p.Arg391Met
Benign
No assertion criteria
DDX53-related disorder
-
DDX53 p.Leu382Met
Likely benign
No assertion criteria
DDX53-related disorder
-
DDX53 p.Met381Ile
Benign
No assertion criteria
DDX53-related disorder
All DDX53 variants
Likely pathogenic 2
- p.Glu190delinsCysArgTer Single submitter
- p.Ser326Asn Single submitter ⚠
Conflicting classifications of pathogenicity 1
- p.Ser27Asn Single submitter ⚠
Benign 11
- p.Ala107Ser Multiple submitters
- p.Gly499Val Multiple submitters ⚠
- p.Ala105= Single submitter
- p.His38Arg Single submitter
- p.Thr569= Single submitter
- p.Arg391Met No assertion criteria DDX53-related disorder ⚠
- p.Arg415= No assertion criteria DDX53-related disorder
- p.Asp358= No assertion criteria DDX53-related disorder
- p.Leu533= No assertion criteria DDX53-related disorder
- p.Met381Ile No assertion criteria DDX53-related disorder ⚠
- p.Val62Ala No assertion criteria DDX53-related disorder
Likely benign 14
- p.Ile134Val Multiple submitters
- p.Ala494Val Single submitter ⚠
- p.Ala5Thr Single submitter
- p.Arg623Ser Single submitter
- p.Glu164Lys Single submitter
- p.Gly271= Single submitter
- p.Ile327Val Single submitter
- p.Pro353= Single submitter
- p.Ser69= Single submitter
- p.Val568Ile Single submitter
- p.Arg214Cys No assertion criteria DDX53-related disorder ⚠
- p.Ile348= No assertion criteria DDX53-related disorder
- p.Leu373= No assertion criteria DDX53-related disorder
- p.Leu382Met No assertion criteria DDX53-related disorder ⚠
Uncertain significance 83
- p.Ala11Gly Single submitter ⚠
- p.Ala437Val Single submitter ⚠
- p.Ala480Ser Single submitter ⚠
- p.Ala579Val Single submitter ⚠
- p.Arg10Thr Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg25Met Single submitter ⚠
- p.Arg333Lys Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg508Gln Single submitter ⚠
- p.Arg560Gly Single submitter ⚠
- p.Asn141Lys Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn334Lys Single submitter ⚠
- p.Asn434Tyr Single submitter ⚠
- p.Asn541Thr Single submitter ⚠
- p.Asp17Gly Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp412His Single submitter ⚠
- p.Asp486Asn Single submitter ⚠
- p.Asp512Ala Single submitter ⚠
- p.Asp535del Single submitter
- p.Asp535Gly Single submitter ⚠
- p.Asp575Gly Single submitter ⚠
- p.Asp73His Single submitter ⚠
- p.Cys163Tyr Single submitter ⚠
- p.Cys52Phe Single submitter ⚠
- p.Gln116Glu Single submitter ⚠
- p.Gln249Lys Single submitter ⚠
- p.Gln360Ter Single submitter
- p.Gln573Lys Single submitter ⚠
- p.Glu122Ala Single submitter ⚠
- p.Glu452Gly Single submitter ⚠
- p.Glu459Gly Single submitter ⚠
- p.Gly241Glu Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly271Glu Single submitter ⚠
- p.Gly332Asp Single submitter ⚠
- p.Gly516Arg Single submitter ⚠
- p.Gly565Ser Single submitter ⚠
- p.Gly580Asp Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.Gly87Ala Single submitter ⚠
- p.Gly87Trp Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Ile263Val Single submitter ⚠
- p.Ile289Val Single submitter ⚠
- p.Ile526Arg Single submitter ⚠
- p.Ile526Thr Single submitter ⚠
- p.Ile82Leu Single submitter ⚠
- p.Leu417Gln Single submitter ⚠
- p.Lys198Asn Single submitter ⚠
- p.Lys453Asn Single submitter ⚠
- p.Met188Ile Single submitter ⚠
- p.Met191Val Single submitter ⚠
- p.Met464Ile Single submitter ⚠
- p.Met578Val Single submitter ⚠
- p.Phe386Ser Single submitter ⚠
- p.Phe513Leu Single submitter ⚠
- p.Phe96Ser Single submitter ⚠
- p.Pro217Ser Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Pro245Leu Single submitter ⚠
- p.Pro388Ala Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Pro50Ser Single submitter ⚠
- p.Ser186Arg Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Ser369Arg Single submitter ⚠
- p.Ser504Thr Single submitter ⚠
- p.Thr524Ala Single submitter ⚠
- p.Trp153Ter Single submitter
- p.Trp22Cys Single submitter ⚠
- p.Trp253Ter Single submitter
- p.Trp32Cys Single submitter ⚠
- p.Tyr429_Val430delinsCys Single submitter
- p.Val414Ala Single submitter ⚠
- p.Val430Ile Single submitter ⚠
- p.Val438Ala Single submitter ⚠
- p.Val550Ile Single submitter ⚠
- p.Val568Phe Single submitter ⚠
- p.Trp8Ter No assertion criteria nephrotic syndrome