PARP1 — 106 ClinVar variants
All ClinVar germline PARP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
8 Benign · 1 Benign/Likely benign · 25 Likely benign · 72 Uncertain significance
Full PARP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PARP1 p.Ala188Val Uncertain significance Single submitter
- PARP1 p.Ala278Ser Uncertain significance Single submitter
- PARP1 p.Ala384Val Uncertain significance Single submitter
- PARP1 p.Ala625Val Uncertain significance Single submitter
- PARP1 p.Ala935Thr Uncertain significance Single submitter
- PARP1 p.Arg156His Uncertain significance Single submitter
- PARP1 p.Arg208Lys Uncertain significance Single submitter
- PARP1 p.Arg282Gln Uncertain significance Single submitter
- PARP1 p.Arg340Gln Uncertain significance Single submitter
- PARP1 p.Arg815Lys Uncertain significance Single submitter
- PARP1 p.Asn424Ser Uncertain significance Single submitter
- PARP1 p.Asn754Lys Uncertain significance Single submitter
- PARP1 p.Asp314Asn Uncertain significance Single submitter
- PARP1 p.Asp726Asn Uncertain significance Single submitter
- PARP1 p.Asp743Asn Uncertain significance Single submitter
- PARP1 p.Gln198Glu Uncertain significance Single submitter
- PARP1 p.Glu360Asp Uncertain significance Single submitter
- PARP1 p.Glu812Lys Uncertain significance Single submitter
- PARP1 p.Gly161Val Uncertain significance Single submitter
- PARP1 p.Gly210Ser Uncertain significance Single submitter
- PARP1 p.Gly399Trp Uncertain significance Single submitter
- PARP1 p.Gly723Asp Uncertain significance Single submitter
- PARP1 p.Gly781Glu Uncertain significance Single submitter
- PARP1 p.Gly843Ser Uncertain significance Single submitter
- PARP1 p.Gly966Asp Uncertain significance Single submitter
- PARP1 p.His53Gln Uncertain significance Single submitter
- PARP1 p.His62Gln Uncertain significance Single submitter
- PARP1 p.Ile879Arg Uncertain significance Single submitter
- PARP1 p.Ile994Thr Uncertain significance Single submitter
- PARP1 p.Leu234Phe Uncertain significance Single submitter
- PARP1 p.Leu33Phe Uncertain significance Single submitter
- PARP1 p.Leu401Pro Uncertain significance Single submitter
- PARP1 p.Leu732Ile Uncertain significance Single submitter
- PARP1 p.Leu854Val Uncertain significance Single submitter
- PARP1 p.Lys1010Arg Uncertain significance Single submitter
- PARP1 p.Lys636Glu Uncertain significance Single submitter
- PARP1 p.Lys748Arg Uncertain significance Single submitter
- PARP1 p.Met129Val Uncertain significance Single submitter
- PARP1 p.Met143Val Uncertain significance Single submitter
- PARP1 p.Met287Val Uncertain significance Single submitter
- PARP1 p.Met411Val Uncertain significance Single submitter
- PARP1 p.Phe614Leu Uncertain significance Single submitter
- PARP1 p.Pro146Leu Uncertain significance Single submitter
- PARP1 p.Pro174Arg Uncertain significance Single submitter
- PARP1 p.Ser16Asn Uncertain significance Single submitter
- PARP1 p.Ser185Asn Uncertain significance Single submitter
- PARP1 p.Ser372Pro Uncertain significance Single submitter
- PARP1 p.Ser391Ala Uncertain significance Single submitter
- PARP1 p.Ser598Asn Uncertain significance Single submitter
- PARP1 p.Ser598Gly Uncertain significance Single submitter
- PARP1 p.Thr397Ile Uncertain significance Single submitter
- PARP1 p.Thr867Pro Uncertain significance Single submitter
- PARP1 p.Thr982Ser Uncertain significance Single submitter
-
PARP1 p.Thr124Ala
Uncertain significance
No assertion criteria
hereditary renal cell carcinoma
Predictors split 16
The independent predictors disagree with each other — read with care.
- PARP1 p.Ala284Val Uncertain significance Single submitter
- PARP1 p.Asp914Gly Uncertain significance Single submitter
- PARP1 p.Gly61Val Uncertain significance Single submitter
- PARP1 p.Gly978Cys Uncertain significance Single submitter
- PARP1 p.Ile412Met Uncertain significance Single submitter
- PARP1 p.Lys142Asn Uncertain significance Single submitter
- PARP1 p.Lys418Met Uncertain significance Single submitter
- PARP1 p.Met35Val Uncertain significance Single submitter
- PARP1 p.Met393Thr Uncertain significance Single submitter
- PARP1 p.Met746Ile Uncertain significance Single submitter
- PARP1 p.Met746Val Uncertain significance Single submitter
- PARP1 p.Ser721Pro Uncertain significance Single submitter
- PARP1 p.Thr124Met Uncertain significance Single submitter
- PARP1 p.Tyr158His Uncertain significance Single submitter
-
PARP1 p.Ser383Tyr
Likely benign
No assertion criteria
PARP1-related disorder
-
PARP1 p.Ser5Trp
Likely benign
No assertion criteria
PARP1-related disorder
All PARP1 variants
Benign 8
- p.Asp314= Multiple submitters
- p.Leu415= Multiple submitters
- p.Val762Ala Multiple submitters
- p.Ala188Thr Single submitter
- p.Phe113= Single submitter
- p.Phe638= Single submitter
- c.287-6C>A No assertion criteria PARP1-related disorder
- p.Lys940Arg No assertion criteria PARP1-related disorder
Benign/Likely benign 1
- p.Pro377Ser Multiple submitters
Likely benign 25
- c.1159+20G>C Single submitter
- c.121-4C>G Single submitter
- c.121-8C>T Single submitter
- c.2277+17G>A Single submitter
- c.2506-15del Single submitter
- c.403-16A>G Single submitter
- p.Ala363= Single submitter
- p.Ala828= Single submitter
- p.Arg806Lys Single submitter
- p.Glu107= Single submitter
- p.Glu296Lys Single submitter
- p.Ile790= Single submitter
- p.Pro750= Single submitter
- p.Ser364= Single submitter
- p.Ser382= Single submitter
- p.Thr397= Single submitter
- p.Thr422= Single submitter
- p.Tyr794= Single submitter
- p.Val334Ile Single submitter
- p.Ala220Val No assertion criteria PARP1-related disorder
- p.Arg865= No assertion criteria PARP1-related disorder
- p.Gly972= No assertion criteria PARP1-related disorder
- p.Ser383Tyr No assertion criteria PARP1-related disorder ⚠
- p.Ser5Trp No assertion criteria PARP1-related disorder ⚠
- p.Val219Ala No assertion criteria PARP1-related disorder
Uncertain significance 72
- p.Ala188Val Single submitter ⚠
- p.Ala278Ser Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Ala384Val Single submitter ⚠
- p.Ala625Val Single submitter ⚠
- p.Ala935Thr Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg208Lys Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg735His Single submitter
- p.Arg815Lys Single submitter ⚠
- p.Asn424Ser Single submitter ⚠
- p.Asn754Lys Single submitter ⚠
- p.Asp314Asn Single submitter ⚠
- p.Asp726Asn Single submitter ⚠
- p.Asp743Asn Single submitter ⚠
- p.Asp914Gly Single submitter ⚠
- p.Gln198Glu Single submitter ⚠
- p.Gln670Ter Single submitter
- p.Glu360Asp Single submitter ⚠
- p.Glu812Lys Single submitter ⚠
- p.Gly161Val Single submitter ⚠
- p.Gly210Ser Single submitter ⚠
- p.Gly399Trp Single submitter ⚠
- p.Gly61Val Single submitter ⚠
- p.Gly723Asp Single submitter ⚠
- p.Gly781Glu Single submitter ⚠
- p.Gly843Ser Single submitter ⚠
- p.Gly966Asp Single submitter ⚠
- p.Gly978Cys Single submitter ⚠
- p.His53Gln Single submitter ⚠
- p.His62Gln Single submitter ⚠
- p.Ile412Met Single submitter ⚠
- p.Ile879Arg Single submitter ⚠
- p.Ile994Thr Single submitter ⚠
- p.Leu234Phe Single submitter ⚠
- p.Leu33Phe Single submitter ⚠
- p.Leu401Pro Single submitter ⚠
- p.Leu732Ile Single submitter ⚠
- p.Leu854Val Single submitter ⚠
- p.Lys1010Arg Single submitter ⚠
- p.Lys142Asn Single submitter ⚠
- p.Lys418Met Single submitter ⚠
- p.Lys636Glu Single submitter ⚠
- p.Lys748Arg Single submitter ⚠
- p.Met129Val Single submitter ⚠
- p.Met143Val Single submitter ⚠
- p.Met287Val Single submitter ⚠
- p.Met35Val Single submitter ⚠
- p.Met393Thr Single submitter ⚠
- p.Met411Val Single submitter ⚠
- p.Met746Ile Single submitter ⚠
- p.Met746Val Single submitter ⚠
- p.Phe614Leu Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro174Arg Single submitter ⚠
- p.Ser16Asn Single submitter ⚠
- p.Ser185Asn Single submitter ⚠
- p.Ser32Leu Single submitter
- p.Ser372Pro Single submitter ⚠
- p.Ser391Ala Single submitter ⚠
- p.Ser598Asn Single submitter ⚠
- p.Ser598Gly Single submitter ⚠
- p.Ser721Pro Single submitter ⚠
- p.Thr124Met Single submitter ⚠
- p.Thr397Ile Single submitter ⚠
- p.Thr867Pro Single submitter ⚠
- p.Thr982Ser Single submitter ⚠
- p.Tyr158His Single submitter ⚠
- p.Tyr583His Single submitter
- p.Thr124Ala No assertion criteria hereditary renal cell carcinoma ⚠