DGKA — 74 ClinVar variants
All ClinVar germline DGKA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
7 Benign · 8 Likely benign · 59 Uncertain significance
Full DGKA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKA p.Arg290Gly Uncertain significance Single submitter
- DGKA p.Arg499Gln Uncertain significance Single submitter
- DGKA p.Asn591His Uncertain significance Single submitter
- DGKA p.Asn626Tyr Uncertain significance Single submitter
- DGKA p.Asp369Asn Uncertain significance Single submitter
- DGKA p.Asp621Gly Uncertain significance Single submitter
- DGKA p.Asp92Glu Uncertain significance Single submitter
- DGKA p.Gly280Arg Uncertain significance Single submitter
- DGKA p.Gly413Cys Uncertain significance Single submitter
- DGKA p.His243Gln Uncertain significance Single submitter
- DGKA p.His299Arg Uncertain significance Single submitter
- DGKA p.His317Arg Uncertain significance Single submitter
- DGKA p.His375Arg Uncertain significance Single submitter
- DGKA p.His619Asn Uncertain significance Single submitter
- DGKA p.Lys585Glu Uncertain significance Single submitter
- DGKA p.Lys652Arg Uncertain significance Single submitter
- DGKA p.Met207Leu Uncertain significance Single submitter
- DGKA p.Met497Thr Uncertain significance Single submitter
- DGKA p.Phe213Leu Uncertain significance Single submitter
- DGKA p.Pro189Ser Uncertain significance Single submitter
- DGKA p.Pro210Ala Uncertain significance Single submitter
- DGKA p.Pro343Leu Uncertain significance Single submitter
- DGKA p.Pro618Leu Uncertain significance Single submitter
- DGKA p.Pro725Arg Uncertain significance Single submitter
- DGKA p.Thr705Met Uncertain significance Single submitter
- DGKA p.Val181Ile Uncertain significance Single submitter
- DGKA p.Val502Leu Uncertain significance Single submitter
- DGKA p.Val646Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- DGKA p.Arg110Gln Uncertain significance Single submitter
- DGKA p.Arg404Gln Uncertain significance Single submitter
- DGKA p.Arg428Gln Uncertain significance Single submitter
- DGKA p.Arg677Cys Uncertain significance Single submitter
- DGKA p.Asp12Ala Uncertain significance Single submitter
- DGKA p.Asp152Glu Uncertain significance Single submitter
- DGKA p.Asp64Gly Uncertain significance Single submitter
- DGKA p.Gln17Arg Uncertain significance Single submitter
- DGKA p.Glu162Lys Uncertain significance Single submitter
- DGKA p.Glu51Lys Uncertain significance Single submitter
- DGKA p.Gly316Ser Uncertain significance Single submitter
- DGKA p.Gly49Ala Uncertain significance Single submitter
- DGKA p.Gly584Glu Uncertain significance Single submitter
- DGKA p.Ile539Ser Uncertain significance Single submitter
- DGKA p.Ile663Thr Uncertain significance Single submitter
- DGKA p.Ile709Met Uncertain significance Single submitter
- DGKA p.Leu672Phe Uncertain significance Single submitter
- DGKA p.Lys32Asn Uncertain significance Single submitter
- DGKA p.Phe731Ser Uncertain significance Single submitter
- DGKA p.Pro383Leu Uncertain significance Single submitter
- DGKA p.Pro718Ser Uncertain significance Single submitter
- DGKA p.Pro724Thr Uncertain significance Single submitter
- DGKA p.Ser132Cys Uncertain significance Single submitter
- DGKA p.Ser294Cys Uncertain significance Single submitter
- DGKA p.Ser492Gly Uncertain significance Single submitter
- DGKA p.Thr124Met Uncertain significance Single submitter
- DGKA p.Thr241Ile Uncertain significance Single submitter
- DGKA p.Thr632Ile Uncertain significance Single submitter
- DGKA p.Tyr623Cys Uncertain significance Single submitter
- DGKA p.Tyr669His Uncertain significance Single submitter
- DGKA p.Val145Met Uncertain significance Single submitter
All DGKA variants
Benign 7
- p.Asn347Lys Multiple submitters
- p.Asp202= Multiple submitters
- p.Asp203= No assertion criteria DGKA-related disorder
- p.Gln391= No assertion criteria DGKA-related disorder
- p.Gln398= No assertion criteria DGKA-related disorder
- p.Gly476= No assertion criteria DGKA-related disorder
- p.Thr296Ala No assertion criteria DGKA-related disorder
Likely benign 8
- p.Arg677His Single submitter
- p.Asn97Ser Single submitter
- p.Gly81Asp Single submitter
- p.Ile521Val No assertion criteria DGKA-related disorder
- p.Lys137Arg No assertion criteria DGKA-related disorder
- p.Phe559= No assertion criteria DGKA-related disorder
- p.Pro343= No assertion criteria DGKA-related disorder
- p.Thr708= No assertion criteria DGKA-related disorder
Uncertain significance 59
- p.Arg110Gln Single submitter ⚠
- p.Arg290Gly Single submitter ⚠
- p.Arg404Gln Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg677Cys Single submitter ⚠
- p.Asn591His Single submitter ⚠
- p.Asn626Tyr Single submitter ⚠
- p.Asp12Ala Single submitter ⚠
- p.Asp152Glu Single submitter ⚠
- p.Asp369Asn Single submitter ⚠
- p.Asp621Gly Single submitter ⚠
- p.Asp64Gly Single submitter ⚠
- p.Asp92Glu Single submitter ⚠
- p.Gln17Arg Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu51Lys Single submitter ⚠
- p.Gly280Arg Single submitter ⚠
- p.Gly316Ser Single submitter ⚠
- p.Gly413Cys Single submitter ⚠
- p.Gly49Ala Single submitter ⚠
- p.Gly584Glu Single submitter ⚠
- p.His243Gln Single submitter ⚠
- p.His299Arg Single submitter ⚠
- p.His317Arg Single submitter ⚠
- p.His375Arg Single submitter ⚠
- p.His619Asn Single submitter ⚠
- p.Ile539Ser Single submitter ⚠
- p.Ile663Thr Single submitter ⚠
- p.Ile709Met Single submitter ⚠
- p.Leu672Phe Single submitter ⚠
- p.Lys32Asn Single submitter ⚠
- p.Lys585Glu Single submitter ⚠
- p.Lys652Arg Single submitter ⚠
- p.Met207Leu Single submitter ⚠
- p.Met497Thr Single submitter ⚠
- p.Phe213Leu Single submitter ⚠
- p.Phe731Ser Single submitter ⚠
- p.Pro189Ser Single submitter ⚠
- p.Pro210Ala Single submitter ⚠
- p.Pro343Leu Single submitter ⚠
- p.Pro383Leu Single submitter ⚠
- p.Pro618Leu Single submitter ⚠
- p.Pro718Ser Single submitter ⚠
- p.Pro724Thr Single submitter ⚠
- p.Pro725Arg Single submitter ⚠
- p.Ser132Cys Single submitter ⚠
- p.Ser294Cys Single submitter ⚠
- p.Ser492Gly Single submitter ⚠
- p.Thr124Met Single submitter ⚠
- p.Thr241Ile Single submitter ⚠
- p.Thr632Ile Single submitter ⚠
- p.Thr705Met Single submitter ⚠
- p.Tyr623Cys Single submitter ⚠
- p.Tyr669His Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val181Ile Single submitter ⚠
- p.Val502Leu Single submitter ⚠
- p.Val646Ile Single submitter ⚠