RPA1 — 95 ClinVar variants
All ClinVar germline RPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
2 Pathogenic · 9 Benign · 9 Likely benign · 75 Uncertain significance
Full RPA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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.
-
RPA1 p.Glu240Lys
Pathogenic
No assertion criteria
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPA1 p.Ser438Asn
Uncertain significance
Multiple submitters
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- RPA1 p.Ala105Gly Uncertain significance Single submitter
- RPA1 p.Ala138Val Uncertain significance Single submitter
- RPA1 p.Ala158Thr Uncertain significance Single submitter
- RPA1 p.Ala158Val Uncertain significance Single submitter
- RPA1 p.Ala342Val Uncertain significance Single submitter
- RPA1 p.Arg499Cys Uncertain significance Single submitter
- RPA1 p.Arg513Cys Uncertain significance Single submitter
- RPA1 p.Arg586Leu Uncertain significance Single submitter
- RPA1 p.Arg92Gly Uncertain significance Single submitter
- RPA1 p.Asn146Lys Uncertain significance Single submitter
- RPA1 p.Asn281Ser Uncertain significance Single submitter
- RPA1 p.Asp291Asn Uncertain significance Single submitter
- RPA1 p.Asp423Asn Uncertain significance Single submitter
- RPA1 p.Asp522Tyr Uncertain significance Single submitter
- RPA1 p.Cys323Phe Uncertain significance Single submitter
- RPA1 p.Gln126Arg Uncertain significance Single submitter
- RPA1 p.Gln15His Uncertain significance Single submitter
- RPA1 p.Gln70Glu Uncertain significance Single submitter
- RPA1 p.Glu229Ala Uncertain significance Single submitter
- RPA1 p.Glu229Gly Uncertain significance Single submitter
- RPA1 p.Glu451Lys Uncertain significance Single submitter
- RPA1 p.Glu555Gly Uncertain significance Single submitter
- RPA1 p.Gly123Arg Uncertain significance Single submitter
- RPA1 p.Gly178Arg Uncertain significance Single submitter
- RPA1 p.Gly17Ala Uncertain significance Single submitter
- RPA1 p.Gly304Glu Uncertain significance Single submitter
-
RPA1 p.Gly353Arg
Uncertain significance
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- RPA1 p.Gly387Ser Uncertain significance Single submitter
- RPA1 p.Gly388Ala Uncertain significance Single submitter
- RPA1 p.Gly90Arg Uncertain significance Single submitter
- RPA1 p.Ile112Met Uncertain significance Single submitter
- RPA1 p.Ile320Val Uncertain significance Single submitter
- RPA1 p.Ile378Val Uncertain significance Single submitter
- RPA1 p.Ile491Thr Uncertain significance Single submitter
- RPA1 p.Ile539Val Uncertain significance Single submitter
- RPA1 p.Ile95Val Uncertain significance Single submitter
- RPA1 p.Leu221His Uncertain significance Single submitter
- RPA1 p.Leu262Pro Uncertain significance Single submitter
- RPA1 p.Leu445Ser Uncertain significance Single submitter
- RPA1 p.Lys157Glu Uncertain significance Single submitter
- RPA1 p.Lys244Arg Uncertain significance Single submitter
- RPA1 p.Met57Ile Uncertain significance Single submitter
- RPA1 p.Met57Thr Uncertain significance Single submitter
- RPA1 p.Phe523Ile Uncertain significance Single submitter
- RPA1 p.Pro115Ser Uncertain significance Single submitter
- RPA1 p.Pro125Arg Uncertain significance Single submitter
-
RPA1 p.Ser148Gly
Uncertain significance
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- RPA1 p.Ser426Ala Uncertain significance Single submitter
- RPA1 p.Thr279Ser Uncertain significance Single submitter
- RPA1 p.Thr357Ser Uncertain significance Single submitter
- RPA1 p.Thr440Ala Uncertain significance Single submitter
- RPA1 p.Thr52Ser Uncertain significance Single submitter
- RPA1 p.Tyr326Cys Uncertain significance Single submitter
- RPA1 p.Val116Leu Uncertain significance Single submitter
- RPA1 p.Val465Met Uncertain significance Single submitter
- RPA1 p.Val576Gly Uncertain significance Single submitter
-
RPA1 p.Leu445Phe
Uncertain significance
No assertion criteria
RPA1-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- RPA1 p.Ala565Gly Uncertain significance Single submitter
- RPA1 p.Arg472His Uncertain significance Single submitter
- RPA1 p.Asn239Ser Uncertain significance Single submitter
- RPA1 p.Asn281Asp Uncertain significance Single submitter
- RPA1 p.Asn487Ser Uncertain significance Single submitter
- RPA1 p.Asp350Asn Uncertain significance Single submitter
- RPA1 p.Glu447Lys Uncertain significance Single submitter
- RPA1 p.Gly424Asp Uncertain significance Single submitter
- RPA1 p.Ser135Cys Uncertain significance Single submitter
- RPA1 p.Thr236Ala Uncertain significance Single submitter
-
RPA1 p.Thr270Ala
Uncertain significance
Single submitter
RPA1-related short telomere syndrome
- RPA1 p.Val576Ala Uncertain significance Single submitter
All RPA1 variants
Pathogenic 2
- p.Glu240Lys No assertion criteria pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 ⚠
- p.Val227Ala No assertion criteria pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Benign 9
- c.34-5C>A Multiple submitters
- p.Pro39= Multiple submitters
- p.Ser352= Multiple submitters
- p.Ser535= Multiple submitters
- c.1093-25T>C Single submitter
- c.1551+29G>A Single submitter
- c.272+48A>G Single submitter
- c.273-44A>G Single submitter
- p.Thr351Ala Single submitter
Likely benign 9
- c.1551+12C>T Single submitter
- c.759+19T>C Single submitter
- p.Ala401Val Single submitter
- p.Arg31= Single submitter
- p.Arg612Lys Single submitter
- p.Asp292Gly Single submitter
- p.Asp89= Single submitter
- p.Thr505= Single submitter
- p.Tyr193= Single submitter
Uncertain significance 75
- p.Ser438Asn Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 ⚠
- c.760-4G>A Single submitter
- c.952+5G>A Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- p.Ala105Gly Single submitter ⚠
- p.Ala138Val Single submitter ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala565Gly Single submitter ⚠
- p.Arg472His Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg513Cys Single submitter ⚠
- p.Arg586Leu Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Asn146Lys Single submitter ⚠
- p.Asn239Ser Single submitter ⚠
- p.Asn281Asp Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn487Ser Single submitter ⚠
- p.Asp291Asn Single submitter ⚠
- p.Asp350Asn Single submitter ⚠
- p.Asp369Gly Single submitter
- p.Asp423Asn Single submitter ⚠
- p.Asp522Tyr Single submitter ⚠
- p.Cys323Phe Single submitter ⚠
- p.Gln126Arg Single submitter ⚠
- p.Gln15His Single submitter ⚠
- p.Gln70Glu Single submitter ⚠
- p.Glu229Ala Single submitter ⚠
- p.Glu229Gly Single submitter ⚠
- p.Glu447Lys Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu555Gly Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly17Ala Single submitter ⚠
- p.Gly304Glu Single submitter ⚠
- p.Gly353Arg Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 ⚠
- p.Gly387Ser Single submitter ⚠
- p.Gly388Ala Single submitter ⚠
- p.Gly424Asp Single submitter ⚠
- p.Gly433Asp Single submitter
- p.Gly90Arg Single submitter ⚠
- p.Ile112Met Single submitter ⚠
- p.Ile249Thr Single submitter
- p.Ile320Val Single submitter ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile491Thr Single submitter ⚠
- p.Ile539Val Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu221His Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu445Ser Single submitter ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Met57Ile Single submitter ⚠
- p.Met57Thr Single submitter ⚠
- p.Phe523Ile Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro125Arg Single submitter ⚠
- p.Ser135Cys Single submitter ⚠
- p.Ser148Gly Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 ⚠
- p.Ser426Ala Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr270Ala Single submitter RPA1-related short telomere syndrome ⚠
- p.Thr279Ser Single submitter ⚠
- p.Thr357Ser Single submitter ⚠
- p.Thr440Ala Single submitter ⚠
- p.Thr52Ser Single submitter ⚠
- p.Tyr326Cys Single submitter ⚠
- p.Val116Leu Single submitter ⚠
- p.Val465Met Single submitter ⚠
- p.Val576Ala Single submitter ⚠
- p.Val576Gly Single submitter ⚠
- p.Leu445Phe No assertion criteria RPA1-related disorder ⚠