POLR1G — 95 ClinVar variants

All ClinVar germline POLR1G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

1 Conflicting · 4 Benign · 11 Likely benign · 79 Uncertain significance

Full POLR1G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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.

POLR1G p.Thr344Met Conflicting Single submitter

Predictors lean, ClinVar uncertain 70

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

Predictors split 7

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

All POLR1G variants

Conflicting classifications of pathogenicity 1

p.Thr344Met Single submitter ⚠

Benign 4

p.Gln504Lys Multiple submitters
p.Lys259Thr Multiple submitters
p.Thr282Ala Multiple submitters cerebrooculofacioskeletal syndrome 4
p.Lys70= Single submitter

Likely benign 11

p.Arg81Gln Single submitter
p.Asp499Glu Single submitter
p.Glu320= Single submitter
p.Gly104= Single submitter
p.Gly113= Single submitter
p.Leu170Pro Single submitter
p.Lys175Arg Single submitter
p.Phe246Leu Single submitter
p.Ser490Pro Single submitter
p.Val434Met Single submitter
p.Val82= Single submitter

Uncertain significance 79

p.Ala10Val Single submitter ⚠
p.Ala190Ser Single submitter ⚠
p.Ala226Gly Single submitter ⚠
p.Ala346Val Single submitter ⚠
p.Ala494Thr Single submitter ⚠
p.Ala92Glu Single submitter ⚠
p.Ala92Val Single submitter ⚠
p.Ala96Val Single submitter ⚠
p.Arg148Gln Single submitter ⚠
p.Arg498Gln Single submitter ⚠
p.Arg502Gln Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg77Gln Single submitter ⚠
p.Arg79His Single submitter ⚠
p.Arg81Gly Single submitter ⚠
p.Asn168Ile Single submitter ⚠
p.Asn168Ser Single submitter ⚠
p.Asp209Asn Single submitter ⚠
p.Asp266Asn Single submitter ⚠
p.Asp410Asn Single submitter ⚠
p.Cys14Trp Single submitter ⚠
p.Cys150Tyr Single submitter ⚠
p.Cys86Arg Single submitter ⚠
p.Gln375Arg Single submitter ⚠
p.Glu225Lys Single submitter ⚠
p.Glu2Lys Single submitter ⚠
p.Glu348Lys Single submitter ⚠
p.Glu353Asp Single submitter ⚠
p.Glu3Lys Single submitter ⚠
p.Glu41Lys Single submitter ⚠
p.Glu442Lys Single submitter ⚠
p.Glu474Gln Single submitter ⚠
p.Glu479Gln Single submitter ⚠
p.Glu493Lys Single submitter ⚠
p.Gly102Glu Single submitter ⚠
p.Gly104Arg Single submitter ⚠
p.Gly120Ser Single submitter ⚠
p.Gly195Arg Single submitter ⚠
p.Gly228Arg Single submitter ⚠
p.Gly295Arg Single submitter ⚠
p.Gly298Arg Single submitter ⚠
p.Gly361Ala Single submitter ⚠
p.Gly405Val Single submitter ⚠
p.Gly497Ser Single submitter ⚠
p.His60Gln Single submitter ⚠
p.Leu125Pro Single submitter ⚠
p.Leu441Pro Single submitter ⚠
p.Lys174Asn Single submitter ⚠
p.Lys215Thr Single submitter ⚠
p.Lys251Arg Single submitter ⚠
p.Lys291Asn Single submitter ⚠
p.Lys331Arg Single submitter ⚠
p.Lys465Gln Single submitter ⚠
p.Met179Thr Single submitter ⚠
p.Met339Thr Single submitter ⚠
p.Met340Lys Single submitter ⚠
p.Phe12Leu Single submitter ⚠
p.Phe12Ser Single submitter ⚠
p.Pro137Ser Single submitter ⚠
p.Pro157Arg Single submitter
p.Pro229Ser Single submitter ⚠
p.Pro22Ala Single submitter ⚠
p.Pro247Leu Single submitter ⚠
p.Pro311Ser Single submitter ⚠
p.Pro38Ser Single submitter ⚠
p.Pro399Thr Single submitter ⚠
p.Pro443Thr Single submitter ⚠
p.Pro4Leu Single submitter ⚠
p.Pro62Leu Single submitter
p.Ser459Cys Single submitter ⚠
p.Ser467Arg Single submitter ⚠
p.Ser470Asn Single submitter ⚠
p.Thr159Ile Single submitter ⚠
p.Thr238Lys Single submitter ⚠
p.Thr276Ile Single submitter ⚠
p.Thr296Met Single submitter ⚠
p.Thr327Met Single submitter ⚠
p.Val510Met Single submitter ⚠
p.Val69Ile Single submitter ⚠