POLD3 — 57 ClinVar variants
All ClinVar germline POLD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Likely pathogenic · 5 Benign · 1 Likely benign · 50 Uncertain significance
Full POLD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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.
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POLD3 p.Lys373Thr
Likely pathogenic
Single submitter
immunodeficiency 122
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
POLD3 p.Asn175Ser
Uncertain significance
Multiple submitters
Alkaline phosphatase, plasma level of, quantitative trait locus 2
- POLD3 p.Ala228Pro Uncertain significance Single submitter
- POLD3 p.Ala256Thr Uncertain significance Single submitter
- POLD3 p.Ala288Thr Uncertain significance Single submitter
- POLD3 p.Arg440Leu Uncertain significance Single submitter
- POLD3 p.Asn245Lys Uncertain significance Single submitter
- POLD3 p.Asn250Ser Uncertain significance Single submitter
- POLD3 p.Asp412Gly Uncertain significance Single submitter
- POLD3 p.Glu210Ala Uncertain significance Single submitter
- POLD3 p.Glu297Ala Uncertain significance Single submitter
- POLD3 p.Glu313Asp Uncertain significance Single submitter
- POLD3 p.Glu345Lys Uncertain significance Single submitter
- POLD3 p.Glu347Asp Uncertain significance Single submitter
- POLD3 p.Glu46Gln Uncertain significance Single submitter
- POLD3 p.Gly280Ala Uncertain significance Single submitter
- POLD3 p.Gly301Arg Uncertain significance Single submitter
- POLD3 p.Met430Arg Uncertain significance Single submitter
- POLD3 p.Pro179Leu Uncertain significance Single submitter
- POLD3 p.Pro352Ser Uncertain significance Single submitter
- POLD3 p.Pro354Ser Uncertain significance Single submitter
- POLD3 p.Pro428Ser Uncertain significance Single submitter
- POLD3 p.Ser124Asn Uncertain significance Single submitter
- POLD3 p.Ser130Asn Uncertain significance Single submitter
- POLD3 p.Thr174Ala Uncertain significance Single submitter
- POLD3 p.Thr365Ser Uncertain significance Single submitter
- POLD3 p.Tyr28Cys Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- POLD3 p.Ser150Leu Benign Multiple submitters
- POLD3 p.Arg385Cys Uncertain significance Single submitter
- POLD3 p.Gln127Arg Uncertain significance Single submitter
- POLD3 p.Glu313Gly Uncertain significance Single submitter
- POLD3 p.Glu406Lys Uncertain significance Single submitter
- POLD3 p.His177Asp Uncertain significance Single submitter
- POLD3 p.Lys123Arg Uncertain significance Single submitter
- POLD3 p.Lys248Arg Uncertain significance Single submitter
- POLD3 p.Pro354Leu Uncertain significance Single submitter
- POLD3 p.Pro367Ser Uncertain significance Single submitter
- POLD3 p.Pro436Arg Uncertain significance Single submitter
- POLD3 p.Ser150Trp Uncertain significance Single submitter
- POLD3 p.Ser186Cys Uncertain significance Single submitter
- POLD3 p.Ser340Phe Uncertain significance Single submitter
- POLD3 p.Ser348Ala Uncertain significance Single submitter
- POLD3 p.Ser409Pro Uncertain significance Single submitter
- POLD3 p.Thr267Ile Uncertain significance Single submitter
- POLD3 p.Thr314Ile Uncertain significance Single submitter
- POLD3 p.Tyr405Cys Uncertain significance Single submitter
- POLD3 p.Val185Phe Uncertain significance Single submitter
- POLD3 p.Val32Ile Uncertain significance Single submitter
- POLD3 p.Val372Gly Uncertain significance Single submitter
- POLD3 p.Val386Ile Uncertain significance Single submitter
- POLD3 p.Val404Ala Uncertain significance Single submitter
- POLD3 p.Val45Ile Uncertain significance Single submitter
-
POLD3 p.Glu368Gln
Benign
No assertion criteria
POLD3-related disorder
All POLD3 variants
Likely pathogenic 1
- p.Lys373Thr Single submitter immunodeficiency 122 ⚠
Benign 5
- p.Ser150Leu Multiple submitters ⚠
- p.Thr311Ile Multiple submitters
- p.Ser374= Single submitter
- p.Glu368Gln No assertion criteria POLD3-related disorder ⚠
- p.Val218Ile No assertion criteria POLD3-related disorder
Likely benign 1
- p.Ser53= No assertion criteria POLD3-related disorder
Uncertain significance 50
- p.Asn175Ser Multiple submitters Alkaline phosphatase, plasma level of, quantitative trait locus 2 ⚠
- p.Ala228Pro Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg440Leu Single submitter ⚠
- p.Asn245Lys Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asp412Gly Single submitter ⚠
- p.Gln127Arg Single submitter ⚠
- p.Glu210Ala Single submitter ⚠
- p.Glu297Ala Single submitter ⚠
- p.Glu313Asp Single submitter ⚠
- p.Glu313Gly Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu347Asp Single submitter ⚠
- p.Glu406Lys Single submitter ⚠
- p.Glu46Gln Single submitter ⚠
- p.Gly280Ala Single submitter ⚠
- p.Gly301Arg Single submitter ⚠
- p.His177Asp Single submitter ⚠
- p.Lys123Arg Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Met430Arg Single submitter ⚠
- p.Pro179Leu Single submitter ⚠
- p.Pro352Ser Single submitter ⚠
- p.Pro354Leu Single submitter ⚠
- p.Pro354Ser Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro428Ser Single submitter ⚠
- p.Pro436Arg Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser130Asn Single submitter ⚠
- p.Ser150Trp Single submitter ⚠
- p.Ser186Cys Single submitter ⚠
- p.Ser340Phe Single submitter ⚠
- p.Ser348Ala Single submitter ⚠
- p.Ser409Pro Single submitter ⚠
- p.Thr174Ala Single submitter ⚠
- p.Thr267Ile Single submitter ⚠
- p.Thr314Ile Single submitter ⚠
- p.Thr365Ser Single submitter ⚠
- p.Tyr28Cys Single submitter ⚠
- p.Tyr405Cys Single submitter ⚠
- p.Val185Phe Single submitter ⚠
- p.Val32Ile Single submitter ⚠
- p.Val372Gly Single submitter ⚠
- p.Val386Ile Single submitter ⚠
- p.Val404Ala Single submitter ⚠
- p.Val45Ile Single submitter ⚠