PLCG1 — 142 ClinVar variants
All ClinVar germline PLCG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
1 Pathogenic · 2 Benign · 7 Likely benign · 132 Uncertain significance
Full PLCG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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 105
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLCG1 p.Arg1277Leu Uncertain significance Multiple submitters
-
PLCG1 p.Arg886Cys
Uncertain significance
Multiple submitters
immune dysregulation, autoimmunity, and autoinflammation
- PLCG1 p.Ala1119Asp Uncertain significance Single submitter
- PLCG1 p.Ala1236Val Uncertain significance Single submitter
- PLCG1 p.Ala224Thr Uncertain significance Single submitter
- PLCG1 p.Ala224Val Uncertain significance Single submitter
- PLCG1 p.Ala235Thr Uncertain significance Single submitter
- PLCG1 p.Ala420Thr Uncertain significance Single submitter
- PLCG1 p.Ala671Thr Uncertain significance Single submitter
- PLCG1 p.Ala703Val Uncertain significance Single submitter
- PLCG1 p.Ala72Thr Uncertain significance Single submitter
- PLCG1 p.Ala930Thr Uncertain significance Single submitter
- PLCG1 p.Arg100Gln Uncertain significance Single submitter
-
PLCG1 p.Arg1010Leu
Uncertain significance
Single submitter
immune dysregulation, autoimmunity, and autoinflammation
- PLCG1 p.Arg1083Cys Uncertain significance Single submitter
- PLCG1 p.Arg1083His Uncertain significance Single submitter
- PLCG1 p.Arg1230Trp Uncertain significance Single submitter
- PLCG1 p.Arg1232Gln Uncertain significance Single submitter
- PLCG1 p.Arg1232Trp Uncertain significance Single submitter
- PLCG1 p.Arg1246Gln Uncertain significance Single submitter
- PLCG1 p.Arg1262Cys Uncertain significance Single submitter
- PLCG1 p.Arg1290His Uncertain significance Single submitter
- PLCG1 p.Arg158Trp Uncertain significance Single submitter
- PLCG1 p.Arg166Gln Uncertain significance Single submitter
- PLCG1 p.Arg168His Uncertain significance Single submitter
- PLCG1 p.Arg197Gln Uncertain significance Single submitter
- PLCG1 p.Arg270His Uncertain significance Single submitter
- PLCG1 p.Arg358Trp Uncertain significance Single submitter
- PLCG1 p.Arg609Cys Uncertain significance Single submitter
- PLCG1 p.Arg64Trp Uncertain significance Single submitter
- PLCG1 p.Arg652Gln Uncertain significance Single submitter
- PLCG1 p.Arg753Pro Uncertain significance Single submitter
- PLCG1 p.Arg893Gln Uncertain significance Single submitter
- PLCG1 p.Asn1137Thr Uncertain significance Single submitter
- PLCG1 p.Asn1195Ser Uncertain significance Single submitter
- PLCG1 p.Asn1195Tyr Uncertain significance Single submitter
- PLCG1 p.Asn1289Ser Uncertain significance Single submitter
- PLCG1 p.Asn167Ser Uncertain significance Single submitter
- PLCG1 p.Asn323Ser Uncertain significance Single submitter
- PLCG1 p.Asn728Ser Uncertain significance Single submitter
-
PLCG1 p.Asp1019Gly
Uncertain significance
Single submitter
PLCG1-related disorder
- PLCG1 p.Asp89Asn Uncertain significance Single submitter
- PLCG1 p.Asp914Asn Uncertain significance Single submitter
- PLCG1 p.Cys1060Ser Uncertain significance Single submitter
- PLCG1 p.Cys247Tyr Uncertain significance Single submitter
- PLCG1 p.Gln1239His Uncertain significance Single submitter
- PLCG1 p.Gln1256Lys Uncertain significance Single submitter
- PLCG1 p.Gln146Glu Uncertain significance Single submitter
- PLCG1 p.Gln256Lys Uncertain significance Single submitter
- PLCG1 p.Gln52Arg Uncertain significance Single submitter
- PLCG1 p.Gln52Pro Uncertain significance Single submitter
- PLCG1 p.Gln916Glu Uncertain significance Single submitter
- PLCG1 p.Glu1231Lys Uncertain significance Single submitter
- PLCG1 p.Glu860Lys Uncertain significance Single submitter
- PLCG1 p.Glu918Asp Uncertain significance Single submitter
- PLCG1 p.Gly263Arg Uncertain significance Single submitter
- PLCG1 p.His1059Tyr Uncertain significance Single submitter
-
PLCG1 p.His380Tyr
Uncertain significance
Single submitter
multiple endocrine neoplasia type 1
- PLCG1 p.His638Arg Uncertain significance Single submitter
-
PLCG1 p.Ile1149Thr
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- PLCG1 p.Ile1209Thr Uncertain significance Single submitter
- PLCG1 p.Ile1209Val Uncertain significance Single submitter
- PLCG1 p.Leu1026Ser Uncertain significance Single submitter
- PLCG1 p.Leu25Phe Uncertain significance Single submitter
- PLCG1 p.Leu855Pro Uncertain significance Single submitter
- PLCG1 p.Lys458Arg Uncertain significance Single submitter
- PLCG1 p.Lys49Arg Uncertain significance Single submitter
- PLCG1 p.Lys536Arg Uncertain significance Single submitter
- PLCG1 p.Lys620Glu Uncertain significance Single submitter
- PLCG1 p.Lys803Glu Uncertain significance Single submitter
- PLCG1 p.Met789Leu Uncertain significance Single submitter
- PLCG1 p.Pro1257Leu Uncertain significance Single submitter
- PLCG1 p.Pro14Leu Uncertain significance Single submitter
- PLCG1 p.Pro252Thr Uncertain significance Single submitter
- PLCG1 p.Pro325Ala Uncertain significance Single submitter
- PLCG1 p.Pro619Leu Uncertain significance Single submitter
- PLCG1 p.Pro745Ala Uncertain significance Single submitter
- PLCG1 p.Pro769Leu Uncertain significance Single submitter
- PLCG1 p.Pro7Ser Uncertain significance Single submitter
- PLCG1 p.Pro852Ala Uncertain significance Single submitter
- PLCG1 p.Ser182Phe Uncertain significance Single submitter
- PLCG1 p.Ser223Asn Uncertain significance Single submitter
- PLCG1 p.Ser445Phe Uncertain significance Single submitter
- PLCG1 p.Ser525Ile Uncertain significance Single submitter
- PLCG1 p.Ser729Leu Uncertain significance Single submitter
- PLCG1 p.Ser903Leu Uncertain significance Single submitter
- PLCG1 p.Thr1056Arg Uncertain significance Single submitter
- PLCG1 p.Thr1227Met Uncertain significance Single submitter
- PLCG1 p.Thr138Ser Uncertain significance Single submitter
- PLCG1 p.Thr396Ala Uncertain significance Single submitter
- PLCG1 p.Thr674Ser Uncertain significance Single submitter
- PLCG1 p.Tyr111Cys Uncertain significance Single submitter
- PLCG1 p.Val1139Leu Uncertain significance Single submitter
- PLCG1 p.Val130Ala Uncertain significance Single submitter
- PLCG1 p.Val164Met Uncertain significance Single submitter
- PLCG1 p.Val22Leu Uncertain significance Single submitter
- PLCG1 p.Val317Ile Uncertain significance Single submitter
- PLCG1 p.Val685Ile Uncertain significance Single submitter
- PLCG1 p.Val853Met Uncertain significance Single submitter
- PLCG1 p.Val875Phe Uncertain significance Single submitter
- PLCG1 p.Val958Ile Uncertain significance Single submitter
-
PLCG1 p.Arg171Cys
Uncertain significance
No assertion criteria
PLCG1-related disorder
-
PLCG1 p.Asn993Ser
Uncertain significance
No assertion criteria
PLCG1-related disorder
-
PLCG1 p.Leu635Val
Uncertain significance
No assertion criteria
PLCG1-related disorder
-
PLCG1 p.Tyr472Cys
Uncertain significance
No assertion criteria
PLCG1-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
- PLCG1 p.Arg1070Leu Uncertain significance Single submitter
- PLCG1 p.Arg195Gln Uncertain significance Single submitter
-
PLCG1 p.Arg197Leu
Uncertain significance
Single submitter
immune dysregulation, autoimmunity, and autoinflammation
- PLCG1 p.Arg197Trp Uncertain significance Single submitter
- PLCG1 p.Arg559Gly Uncertain significance Single submitter
- PLCG1 p.Arg559His Uncertain significance Single submitter
- PLCG1 p.Arg601Trp Uncertain significance Single submitter
- PLCG1 p.Arg613Trp Uncertain significance Single submitter
- PLCG1 p.Arg76Leu Uncertain significance Single submitter
- PLCG1 p.Asp269His Uncertain significance Single submitter
- PLCG1 p.Glu575Lys Uncertain significance Single submitter
- PLCG1 p.Glu730Asp Uncertain significance Single submitter
- PLCG1 p.Gly577Arg Uncertain significance Single submitter
- PLCG1 p.Gly603Arg Uncertain significance Single submitter
- PLCG1 p.Lys1193Asn Uncertain significance Single submitter
- PLCG1 p.Met1047Val Uncertain significance Single submitter
- PLCG1 p.Phe254Leu Uncertain significance Single submitter
- PLCG1 p.Phe298Leu Uncertain significance Single submitter
- PLCG1 p.Ser1123Gly Uncertain significance Single submitter
- PLCG1 p.Ser63Arg Uncertain significance Single submitter
- PLCG1 p.Val1063Met Uncertain significance Single submitter
- PLCG1 p.Val432Leu Uncertain significance Single submitter
- PLCG1 p.Val685Leu Uncertain significance Single submitter
-
PLCG1 p.Gly558Glu
Uncertain significance
No assertion criteria
PLCG1-related disorder
All PLCG1 variants
Pathogenic 1
- p.Ser1021Phe No assertion criteria immune dysregulation, autoimmunity, and autoinflammation
Likely benign 7
- p.Asn547Ser Multiple submitters
- p.Ala933= Single submitter
- p.Leu746= Single submitter
- p.Met479Val Single submitter
- p.Ser815= Single submitter
- p.Ala804= No assertion criteria PLCG1-related disorder
- p.Asp1122= No assertion criteria PLCG1-related disorder
Uncertain significance 132
- p.Arg1277Leu Multiple submitters ⚠
- p.Arg886Cys Multiple submitters immune dysregulation, autoimmunity, and autoinflammation ⚠
- p.Ala1119Asp Single submitter ⚠
- p.Ala1236Val Single submitter ⚠
- p.Ala224Thr Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala420Thr Single submitter ⚠
- p.Ala671Thr Single submitter ⚠
- p.Ala703Val Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala930Thr Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg1010Leu Single submitter immune dysregulation, autoimmunity, and autoinflammation ⚠
- p.Arg1070Leu Single submitter ⚠
- p.Arg1083Cys Single submitter ⚠
- p.Arg1083His Single submitter ⚠
- p.Arg1230Trp Single submitter ⚠
- p.Arg1232Gln Single submitter ⚠
- p.Arg1232Trp Single submitter ⚠
- p.Arg1246Gln Single submitter ⚠
- p.Arg1262Cys Single submitter ⚠
- p.Arg1290His Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg197Leu Single submitter immune dysregulation, autoimmunity, and autoinflammation ⚠
- p.Arg197Trp Single submitter ⚠
- p.Arg270His Single submitter ⚠
- p.Arg358Trp Single submitter ⚠
- p.Arg559Gly Single submitter ⚠
- p.Arg559His Single submitter ⚠
- p.Arg601Trp Single submitter ⚠
- p.Arg609Cys Single submitter ⚠
- p.Arg613Trp Single submitter ⚠
- p.Arg64Trp Single submitter ⚠
- p.Arg652Gln Single submitter ⚠
- p.Arg753Pro Single submitter ⚠
- p.Arg76Leu Single submitter ⚠
- p.Arg893Gln Single submitter ⚠
- p.Asn1137Thr Single submitter ⚠
- p.Asn1195Ser Single submitter ⚠
- p.Asn1195Tyr Single submitter ⚠
- p.Asn1289Ser Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn323Ser Single submitter ⚠
- p.Asn728Ser Single submitter ⚠
- p.Asp1019Gly Single submitter PLCG1-related disorder ⚠
- p.Asp269His Single submitter ⚠
- p.Asp89Asn Single submitter ⚠
- p.Asp914Asn Single submitter ⚠
- p.Cys1060Ser Single submitter ⚠
- p.Cys247Tyr Single submitter ⚠
- p.Gln1239His Single submitter ⚠
- p.Gln1256Lys Single submitter ⚠
- p.Gln146Glu Single submitter ⚠
- p.Gln256Lys Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Gln52Pro Single submitter ⚠
- p.Gln916Glu Single submitter ⚠
- p.Glu1231Lys Single submitter ⚠
- p.Glu575Lys Single submitter ⚠
- p.Glu730Asp Single submitter ⚠
- p.Glu860Lys Single submitter ⚠
- p.Glu918Asp Single submitter ⚠
- p.Gly263Arg Single submitter ⚠
- p.Gly577Arg Single submitter ⚠
- p.Gly603Arg Single submitter ⚠
- p.His1059Tyr Single submitter ⚠
- p.His380Tyr Single submitter multiple endocrine neoplasia type 1 ⚠
- p.His638Arg Single submitter ⚠
- p.Ile1149Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Ile1209Thr Single submitter ⚠
- p.Ile1209Val Single submitter ⚠
- p.Leu1026Ser Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu855Pro Single submitter ⚠
- p.Lys1193Asn Single submitter ⚠
- p.Lys458Arg Single submitter ⚠
- p.Lys49Arg Single submitter ⚠
- p.Lys536Arg Single submitter ⚠
- p.Lys620Glu Single submitter ⚠
- p.Lys803Glu Single submitter ⚠
- p.Met1047Val Single submitter ⚠
- p.Met789Leu Single submitter ⚠
- p.Phe254Leu Single submitter ⚠
- p.Phe298Leu Single submitter ⚠
- p.Pro1257Leu Single submitter ⚠
- p.Pro14Leu Single submitter ⚠
- p.Pro252Thr Single submitter ⚠
- p.Pro325Ala Single submitter ⚠
- p.Pro441Ser Single submitter
- p.Pro619Leu Single submitter ⚠
- p.Pro745Ala Single submitter ⚠
- p.Pro769Leu Single submitter ⚠
- p.Pro7Ser Single submitter ⚠
- p.Pro852Ala Single submitter ⚠
- p.Ser1123Gly Single submitter ⚠
- p.Ser182Phe Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser445Phe Single submitter ⚠
- p.Ser525Ile Single submitter ⚠
- p.Ser541del Single submitter multiple endocrine neoplasia type 1
- p.Ser63Arg Single submitter ⚠
- p.Ser729Leu Single submitter ⚠
- p.Ser903Leu Single submitter ⚠
- p.Thr1056Arg Single submitter ⚠
- p.Thr1227Met Single submitter ⚠
- p.Thr138Ser Single submitter ⚠
- p.Thr396Ala Single submitter ⚠
- p.Thr674Ser Single submitter ⚠
- p.Tyr111Cys Single submitter ⚠
- p.Val1063Met Single submitter ⚠
- p.Val1139Leu Single submitter ⚠
- p.Val130Ala Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val22Leu Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val432Leu Single submitter ⚠
- p.Val685Ile Single submitter ⚠
- p.Val685Leu Single submitter ⚠
- p.Val853Met Single submitter ⚠
- p.Val875Phe Single submitter ⚠
- p.Val958Ile Single submitter ⚠
- p.Arg171Cys No assertion criteria PLCG1-related disorder ⚠
- p.Asn993Ser No assertion criteria PLCG1-related disorder ⚠
- p.Gly558Glu No assertion criteria PLCG1-related disorder ⚠
- p.Ile1090_Ser1091insIle No assertion criteria PLCG1-related disorder
- p.Leu635Val No assertion criteria PLCG1-related disorder ⚠
- p.Tyr472Cys No assertion criteria PLCG1-related disorder ⚠