PLCB3 — 161 ClinVar variants
All ClinVar germline PLCB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →
1 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 22 Likely benign · 129 Uncertain significance
Full PLCB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 123
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.
-
PLCB3 p.Ala878Ser
Likely pathogenic
Single submitter
spondylometaphyseal dysplasia with corneal dystrophy
Predictors lean, ClinVar uncertain 98
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PLCB3 p.Ser1107Leu
Uncertain significance
Multiple submitters
spondylometaphyseal dysplasia with corneal dystrophy
- PLCB3 p.Ala1016Thr Uncertain significance Single submitter
- PLCB3 p.Ala1054Gly Uncertain significance Single submitter
- PLCB3 p.Ala1075Thr Uncertain significance Single submitter
- PLCB3 p.Ala1170Thr Uncertain significance Single submitter
- PLCB3 p.Ala1173Ser Uncertain significance Single submitter
- PLCB3 p.Ala1206Val Uncertain significance Single submitter
- PLCB3 p.Ala1213Val Uncertain significance Single submitter
- PLCB3 p.Ala181Thr Uncertain significance Single submitter
- PLCB3 p.Ala687Val Uncertain significance Single submitter
- PLCB3 p.Ala727Thr Uncertain significance Single submitter
- PLCB3 p.Ala877Thr Uncertain significance Single submitter
- PLCB3 p.Ala999Thr Uncertain significance Single submitter
- PLCB3 p.Arg1006Trp Uncertain significance Single submitter
- PLCB3 p.Arg1046Gln Uncertain significance Single submitter
- PLCB3 p.Arg1046Trp Uncertain significance Single submitter
- PLCB3 p.Arg1180Gln Uncertain significance Single submitter
- PLCB3 p.Arg1182Ser Uncertain significance Single submitter
- PLCB3 p.Arg169Trp Uncertain significance Single submitter
- PLCB3 p.Arg185Trp Uncertain significance Single submitter
- PLCB3 p.Arg390Cys Uncertain significance Single submitter
- PLCB3 p.Arg462Cys Uncertain significance Single submitter
- PLCB3 p.Arg470Gln Uncertain significance Single submitter
- PLCB3 p.Arg555Cys Uncertain significance Single submitter
- PLCB3 p.Arg706Gly Uncertain significance Single submitter
- PLCB3 p.Arg706Trp Uncertain significance Single submitter
- PLCB3 p.Arg760His Uncertain significance Single submitter
- PLCB3 p.Arg874Gln Uncertain significance Single submitter
- PLCB3 p.Arg919Gln Uncertain significance Single submitter
- PLCB3 p.Arg938His Uncertain significance Single submitter
- PLCB3 p.Arg975Gln Uncertain significance Single submitter
- PLCB3 p.Arg978Cys Uncertain significance Single submitter
- PLCB3 p.Arg98Gln Uncertain significance Single submitter
- PLCB3 p.Arg991His Uncertain significance Single submitter
- PLCB3 p.Asn666Ser Uncertain significance Single submitter
- PLCB3 p.Asp32Glu Uncertain significance Single submitter
- PLCB3 p.Asp391His Uncertain significance Single submitter
- PLCB3 p.Asp62Glu Uncertain significance Single submitter
- PLCB3 p.Asp713Asn Uncertain significance Single submitter
- PLCB3 p.Asp713His Uncertain significance Single submitter
- PLCB3 p.Cys1176Arg Uncertain significance Single submitter
- PLCB3 p.Cys1176Tyr Uncertain significance Single submitter
- PLCB3 p.Cys1207Arg Uncertain significance Single submitter
- PLCB3 p.Cys1207Trp Uncertain significance Single submitter
- PLCB3 p.Gln1040Arg Uncertain significance Single submitter
- PLCB3 p.Gln1079Glu Uncertain significance Single submitter
- PLCB3 p.Gln1095Arg Uncertain significance Single submitter
- PLCB3 p.Gln252Arg Uncertain significance Single submitter
- PLCB3 p.Gln507Lys Uncertain significance Single submitter
- PLCB3 p.Gln5Lys Uncertain significance Single submitter
- PLCB3 p.Gln899His Uncertain significance Single submitter
- PLCB3 p.Glu1141Asp Uncertain significance Single submitter
- PLCB3 p.Glu1164Asp Uncertain significance Single submitter
- PLCB3 p.Glu277Lys Uncertain significance Single submitter
- PLCB3 p.Glu440Lys Uncertain significance Single submitter
- PLCB3 p.Glu496Lys Uncertain significance Single submitter
- PLCB3 p.Glu502Lys Uncertain significance Single submitter
- PLCB3 p.Glu884Ala Uncertain significance Single submitter
- PLCB3 p.Glu956Ala Uncertain significance Single submitter
- PLCB3 p.Gly1024Trp Uncertain significance Single submitter
- PLCB3 p.Gly1202Ala Uncertain significance Single submitter
- PLCB3 p.Gly1211Ser Uncertain significance Single submitter
- PLCB3 p.Gly1215Arg Uncertain significance Single submitter
- PLCB3 p.Gly1215Glu Uncertain significance Single submitter
- PLCB3 p.Gly482Arg Uncertain significance Single submitter
- PLCB3 p.Gly518Asp Uncertain significance Single submitter
- PLCB3 p.Gly881Glu Uncertain significance Single submitter
- PLCB3 p.Ile250Met Uncertain significance Single submitter
- PLCB3 p.Ile880Thr Uncertain significance Single submitter
- PLCB3 p.Ile942Leu Uncertain significance Single submitter
- PLCB3 p.Leu550Pro Uncertain significance Single submitter
- PLCB3 p.Leu900Arg Uncertain significance Single submitter
- PLCB3 p.Leu99Val Uncertain significance Single submitter
- PLCB3 p.Lys253Arg Uncertain significance Single submitter
- PLCB3 p.Lys529Asn Uncertain significance Single submitter
- PLCB3 p.Lys613Arg Uncertain significance Single submitter
- PLCB3 p.Phe1034Cys Uncertain significance Single submitter
- PLCB3 p.Pro1214Ala Uncertain significance Single submitter
- PLCB3 p.Pro1214Thr Uncertain significance Single submitter
- PLCB3 p.Pro265Leu Uncertain significance Single submitter
- PLCB3 p.Pro388Ala Uncertain significance Single submitter
- PLCB3 p.Pro446Ser Uncertain significance Single submitter
- PLCB3 p.Pro6Leu Uncertain significance Single submitter
- PLCB3 p.Pro708Leu Uncertain significance Single submitter
- PLCB3 p.Pro917Ser Uncertain significance Single submitter
- PLCB3 p.Ser1221Leu Uncertain significance Single submitter
- PLCB3 p.Ser498Pro Uncertain significance Single submitter
- PLCB3 p.Ser504Cys Uncertain significance Single submitter
- PLCB3 p.Ser604Phe Uncertain significance Single submitter
- PLCB3 p.Thr21Ile Uncertain significance Single submitter
- PLCB3 p.Thr55Met Uncertain significance Single submitter
- PLCB3 p.Thr758Lys Uncertain significance Single submitter
- PLCB3 p.Tyr1031Phe Uncertain significance Single submitter
- PLCB3 p.Tyr548Cys Uncertain significance Single submitter
- PLCB3 p.Val1039Met Uncertain significance Single submitter
- PLCB3 p.Val1151Ala Uncertain significance Single submitter
- PLCB3 p.Val667Ile Uncertain significance Single submitter
- PLCB3 p.Val730Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- PLCB3 p.Ala1064Pro Uncertain significance Single submitter
- PLCB3 p.Ala189Ser Uncertain significance Single submitter
- PLCB3 p.Ala189Val Uncertain significance Single submitter
- PLCB3 p.Arg1030Trp Uncertain significance Single submitter
- PLCB3 p.Arg1112Trp Uncertain significance Single submitter
- PLCB3 p.Arg1189Trp Uncertain significance Single submitter
- PLCB3 p.Arg199Gln Uncertain significance Single submitter
- PLCB3 p.Arg44His Uncertain significance Single submitter
- PLCB3 p.Arg470Trp Uncertain significance Single submitter
- PLCB3 p.Arg759Trp Uncertain significance Single submitter
- PLCB3 p.Arg975Trp Uncertain significance Single submitter
- PLCB3 p.Arg983Trp Uncertain significance Single submitter
- PLCB3 p.Cys614Arg Uncertain significance Single submitter
- PLCB3 p.Gln1154Glu Uncertain significance Single submitter
- PLCB3 p.Glu638Lys Uncertain significance Single submitter
- PLCB3 p.Ile745Thr Uncertain significance Single submitter
- PLCB3 p.Leu754Ile Uncertain significance Single submitter
- PLCB3 p.Leu868Pro Uncertain significance Single submitter
- PLCB3 p.Pro1184Leu Uncertain significance Single submitter
- PLCB3 p.Pro322Ser Uncertain significance Single submitter
- PLCB3 p.Ser696Gly Uncertain significance Single submitter
- PLCB3 p.Ser767Pro Uncertain significance Single submitter
- PLCB3 p.Thr623Asn Uncertain significance Single submitter
- PLCB3 p.Val621Ala Uncertain significance Single submitter
All PLCB3 variants
Likely pathogenic 1
- p.Ala878Ser Single submitter spondylometaphyseal dysplasia with corneal dystrophy ⚠
Benign 8
- c.2038+7C>A Multiple submitters
- c.99+8C>T Multiple submitters
- p.Glu1023Asp Multiple submitters
- p.Glu60= Multiple submitters
- p.Pro171= Multiple submitters
- p.Ser845Leu Multiple submitters
- p.Glu564Ala Single submitter
- p.Pro920His Single submitter
Benign/Likely benign 1
- p.Val806Ile Multiple submitters
Likely benign 22
- p.Thr158Met Multiple submitters
- c.1338+12C>T Single submitter
- c.2652+8_2652+12dup Single submitter
- c.3189+12G>T Single submitter
- c.3266+9C>T Single submitter
- c.467+12G>A Single submitter
- c.597+11T>G Single submitter
- p.Ala1213Thr Single submitter
- p.Ala156= Single submitter
- p.Ala353Val Single submitter
- p.Arg223= Single submitter
- p.Asn666= Single submitter
- p.Asn686= Single submitter
- p.Asp435= Single submitter
- p.Gln1185= Single submitter
- p.Gln5Arg Single submitter
- p.Gly1202Arg Single submitter
- p.Pro904Leu Single submitter
- p.Ser192= Single submitter
- p.Ser618= Single submitter
- p.Thr1232= Single submitter
- p.Val823Ile Single submitter
Uncertain significance 129
- p.Ser1107Leu Multiple submitters spondylometaphyseal dysplasia with corneal dystrophy ⚠
- p.Ala1016Thr Single submitter ⚠
- p.Ala1054Gly Single submitter ⚠
- p.Ala1064Pro Single submitter ⚠
- p.Ala1075Thr Single submitter ⚠
- p.Ala1170Thr Single submitter ⚠
- p.Ala1173Ser Single submitter ⚠
- p.Ala1206Val Single submitter ⚠
- p.Ala1213Val Single submitter ⚠
- p.Ala181Thr Single submitter ⚠
- p.Ala189Ser Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Ala687Val Single submitter ⚠
- p.Ala727Thr Single submitter ⚠
- p.Ala877Thr Single submitter ⚠
- p.Ala999Thr Single submitter ⚠
- p.Arg1006Trp Single submitter ⚠
- p.Arg1030Trp Single submitter ⚠
- p.Arg1046Gln Single submitter ⚠
- p.Arg1046Trp Single submitter ⚠
- p.Arg1112Trp Single submitter ⚠
- p.Arg1180Gln Single submitter ⚠
- p.Arg1182Ser Single submitter ⚠
- p.Arg1189Trp Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg470Trp Single submitter ⚠
- p.Arg555Cys Single submitter ⚠
- p.Arg706Gly Single submitter ⚠
- p.Arg706Trp Single submitter ⚠
- p.Arg759Trp Single submitter ⚠
- p.Arg760His Single submitter ⚠
- p.Arg874Gln Single submitter ⚠
- p.Arg87Trp Single submitter
- p.Arg919Gln Single submitter ⚠
- p.Arg938His Single submitter ⚠
- p.Arg975Gln Single submitter ⚠
- p.Arg975Trp Single submitter ⚠
- p.Arg978Cys Single submitter ⚠
- p.Arg983Trp Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Arg991His Single submitter ⚠
- p.Asn666Ser Single submitter ⚠
- p.Asp32Glu Single submitter ⚠
- p.Asp391Asn Single submitter
- p.Asp391His Single submitter ⚠
- p.Asp458His Single submitter
- p.Asp514fs Single submitter
- p.Asp62Glu Single submitter ⚠
- p.Asp713Asn Single submitter ⚠
- p.Asp713His Single submitter ⚠
- p.Asp740Asn Single submitter
- p.Cys1176Arg Single submitter ⚠
- p.Cys1176Tyr Single submitter ⚠
- p.Cys1207Arg Single submitter ⚠
- p.Cys1207Trp Single submitter ⚠
- p.Cys614Arg Single submitter ⚠
- p.Gln1040Arg Single submitter ⚠
- p.Gln1079Glu Single submitter ⚠
- p.Gln1095Arg Single submitter ⚠
- p.Gln1154Glu Single submitter ⚠
- p.Gln252Arg Single submitter ⚠
- p.Gln507Lys Single submitter ⚠
- p.Gln5Lys Single submitter ⚠
- p.Gln899His Single submitter ⚠
- p.Glu1141Asp Single submitter ⚠
- p.Glu1164Asp Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu496Lys Single submitter ⚠
- p.Glu502Lys Single submitter ⚠
- p.Glu638Lys Single submitter ⚠
- p.Glu884Ala Single submitter ⚠
- p.Glu956Ala Single submitter ⚠
- p.Gly1024Trp Single submitter ⚠
- p.Gly1202Ala Single submitter ⚠
- p.Gly1211Ser Single submitter ⚠
- p.Gly1215Arg Single submitter ⚠
- p.Gly1215Glu Single submitter ⚠
- p.Gly461Cys Single submitter
- p.Gly482Arg Single submitter ⚠
- p.Gly518Asp Single submitter ⚠
- p.Gly881Glu Single submitter ⚠
- p.Ile250Met Single submitter ⚠
- p.Ile745Thr Single submitter ⚠
- p.Ile880Thr Single submitter ⚠
- p.Ile942Leu Single submitter ⚠
- p.Leu550Pro Single submitter ⚠
- p.Leu754Ile Single submitter ⚠
- p.Leu868Pro Single submitter ⚠
- p.Leu900Arg Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys529Asn Single submitter ⚠
- p.Lys613Arg Single submitter ⚠
- p.Phe1034Cys Single submitter ⚠
- p.Pro1184Leu Single submitter ⚠
- p.Pro1214Ala Single submitter ⚠
- p.Pro1214Thr Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro388Ala Single submitter ⚠
- p.Pro446Ser Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro708Leu Single submitter ⚠
- p.Pro917Ser Single submitter ⚠
- p.Ser1221Leu Single submitter ⚠
- p.Ser498Pro Single submitter ⚠
- p.Ser504Cys Single submitter ⚠
- p.Ser604Phe Single submitter ⚠
- p.Ser696Gly Single submitter ⚠
- p.Ser767Pro Single submitter ⚠
- p.Thr21Ile Single submitter ⚠
- p.Thr55Met Single submitter ⚠
- p.Thr623Asn Single submitter ⚠
- p.Thr758Lys Single submitter ⚠
- p.Thr758Met Single submitter
- p.Tyr1031Phe Single submitter ⚠
- p.Tyr548Cys Single submitter ⚠
- p.Val1039Met Single submitter ⚠
- p.Val1151Ala Single submitter ⚠
- p.Val621Ala Single submitter ⚠
- p.Val667Ile Single submitter ⚠
- p.Val730Ile Single submitter ⚠