IRAK3 — 114 ClinVar variants

All ClinVar germline IRAK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

2 Likely pathogenic · 1 Conflicting · 6 Benign · 13 Likely benign · 92 Uncertain significance

Full IRAK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

IRAK3 p.Lys203Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 68

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All IRAK3 variants

Likely pathogenic 2

p.Arg384fs Single submitter
p.Val407Ter Single submitter

Conflicting classifications of pathogenicity 1

p.Lys203Arg Single submitter ⚠

Benign 6

p.Gln156= Multiple submitters
p.Lys145= Multiple submitters
p.Ile147Val No assertion criteria IRAK3-related disorder
p.Ile270Val No assertion criteria IRAK3-related disorder
p.Pro466Arg No assertion criteria IRAK3-related disorder
p.Ser551= No assertion criteria IRAK3-related disorder

Likely benign 13

p.Ile381= Multiple submitters
p.Arg424Gln Single submitter
p.Asn487fs Single submitter Hirschsprung disease, susceptibility to, 1
p.His220Arg Single submitter
p.Lys521Arg Single submitter
p.Met1Val Single submitter
p.Tyr180Ter Single submitter
c.381+10G>A No assertion criteria IRAK3-related disorder
p.Glu513= No assertion criteria IRAK3-related disorder
p.Ile171Val No assertion criteria IRAK3-related disorder
p.Leu400Val No assertion criteria IRAK3-related disorder
p.Ser288= No assertion criteria IRAK3-related disorder
p.Ser449= No assertion criteria IRAK3-related disorder

Uncertain significance 92

p.Ala130Ser Single submitter ⚠
p.Ala2Glu Single submitter ⚠
p.Ala2Gly Single submitter ⚠
p.Ala30Pro Single submitter ⚠
p.Ala416Ser Single submitter ⚠
p.Arg267Ter Single submitter
p.Arg384Trp Single submitter ⚠
p.Arg388Lys Single submitter ⚠
p.Arg412Trp Single submitter ⚠
p.Arg429Gly Single submitter ⚠
p.Arg497Lys Single submitter ⚠
p.Arg555Lys Single submitter ⚠
p.Asn157His Single submitter ⚠
p.Asp303Gly Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Asp376Ala Single submitter ⚠
p.Asp499Glu Single submitter ⚠
p.Asp562Val Single submitter ⚠
p.Cys255Tyr Single submitter ⚠
p.Cys29Gly Single submitter
p.Cys539Tyr Single submitter ⚠
p.Gln201Lys Single submitter ⚠
p.Gln348Arg Single submitter ⚠
p.Gln64Glu Single submitter ⚠
p.Glu175Val Single submitter ⚠
p.Glu483Lys Single submitter ⚠
p.Glu596Ala Single submitter ⚠
p.Gly26Arg Single submitter ⚠
p.Gly37Arg Single submitter ⚠
p.Gly395Cys Single submitter
p.Gly495Ser Single submitter ⚠
p.Gly9Ser Single submitter ⚠
p.His142Tyr Single submitter ⚠
p.His380Arg Single submitter ⚠
p.His57Asn Single submitter ⚠
p.His95Arg Single submitter ⚠
p.His95Tyr Single submitter
p.Ile176Phe Single submitter ⚠
p.Ile184Phe Single submitter ⚠
p.Ile299Asn Single submitter ⚠
p.Ile346Thr Single submitter ⚠
p.Ile99Val Single submitter ⚠
p.Leu148Gln Single submitter ⚠
p.Leu32Met Single submitter ⚠
p.Leu351Phe Single submitter ⚠
p.Leu386Ile Single submitter ⚠
p.Leu403Pro Single submitter ⚠
p.Leu44Pro Single submitter ⚠
p.Leu460Pro Single submitter
p.Leu554Ter Single submitter
p.Leu86Val Single submitter ⚠
p.Lys417Glu Single submitter ⚠
p.Lys521Glu Single submitter ⚠
p.Lys522Asn Single submitter ⚠
p.Lys584Arg Single submitter ⚠
p.Met314Val Single submitter ⚠
p.Met330Arg Single submitter ⚠
p.Met391Thr Single submitter ⚠
p.Met534Val Single submitter ⚠
p.Pro408Leu Single submitter ⚠
p.Pro434Thr Single submitter ⚠
p.Pro535Ser Single submitter ⚠
p.Ser325Asn Single submitter ⚠
p.Ser332Thr Single submitter ⚠
p.Ser51Arg Single submitter ⚠
p.Ser537Phe Single submitter ⚠
p.Ser564Phe Single submitter ⚠
p.Ser579Arg Single submitter ⚠
p.Ser579Asn Single submitter ⚠
p.Thr103Ile Single submitter ⚠
p.Thr103Pro Single submitter ⚠
p.Thr15Lys Single submitter ⚠
p.Thr162Ala Single submitter
p.Thr162Asn Single submitter ⚠
p.Thr331Asn Single submitter ⚠
p.Thr331Ile Single submitter ⚠
p.Thr458Ile Single submitter ⚠
p.Thr69Ala Single submitter
p.Trp74Ser Single submitter ⚠
p.Trp76Arg Single submitter ⚠
p.Tyr243His Single submitter
p.Tyr547Cys Single submitter ⚠
p.Tyr557Cys Single submitter ⚠
p.Val182Met Single submitter ⚠
p.Val256Ile Single submitter ⚠
p.Val256Leu Single submitter ⚠
p.Val284Ile Single submitter ⚠
p.Val31fs Single submitter
p.Val439Ile Single submitter ⚠
p.Val514Ile Single submitter ⚠
p.Val514Phe Single submitter
p.Val559Leu Single submitter ⚠