PLEKHG3 — 192 ClinVar variants

All ClinVar germline PLEKHG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

2 Conflicting · 10 Benign · 26 Likely benign · 154 Uncertain significance

Full PLEKHG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 129

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

Predictors split 16

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

All PLEKHG3 variants

Conflicting classifications of pathogenicity 2

p.Arg479Gly Single submitter ⚠
p.Pro1170Ser Single submitter ⚠

Benign 10

p.Arg310Cys Multiple submitters
p.Gln928= Multiple submitters
p.Leu842Val Multiple submitters
p.Pro1199Leu Multiple submitters
p.Thr195Met Multiple submitters ⚠
p.Val1050Ile Multiple submitters
c.351+9C>T Single submitter
p.Gly897= Single submitter
p.Met560Val Single submitter
p.Val604Ile Single submitter

Likely benign 26

p.Leu153= Multiple submitters
c.1213-7C>T Single submitter
c.2939-5C>T Single submitter
c.849+6C>G Single submitter
c.*5780G>A Single submitter
c.*5789C>T Single submitter
c.*5935G>C Single submitter
c.*6258A>C Single submitter
p.Arg1072Cys Single submitter
p.Arg1099Cys Single submitter
p.Arg1142Gln Single submitter
p.Glu998= Single submitter
p.Gly1069Ser Single submitter
p.Gly486Ser Single submitter
p.Gly628Asp Single submitter
p.Leu709Val Single submitter
p.Leu91= Single submitter
p.Leu988= Single submitter
p.Met583Val Single submitter
p.Pro1048= Single submitter
p.Pro1170= Single submitter
p.Pro1188Leu Single submitter
p.Pro1199= Single submitter
p.Ser868= Single submitter
p.Thr531Met Single submitter
p.Val71Met Single submitter

Uncertain significance 154

p.Ala1035Thr Single submitter ⚠
p.Ala266Val Single submitter ⚠
p.Ala46Thr Single submitter ⚠
p.Ala522Pro Single submitter ⚠
p.Ala606Val Single submitter ⚠
p.Ala732Gly Single submitter ⚠
p.Ala732Ser Single submitter ⚠
p.Arg1014Cys Single submitter ⚠
p.Arg1036Gln Single submitter ⚠
p.Arg1051Cys Single submitter ⚠
p.Arg1051His Single submitter ⚠
p.Arg1064Cys Single submitter ⚠
p.Arg1070Trp Single submitter ⚠
p.Arg1097His Single submitter ⚠
p.Arg1099His Single submitter ⚠
p.Arg1107Gln Single submitter ⚠
p.Arg15Gln Single submitter ⚠
p.Arg15Trp Single submitter ⚠
p.Arg199Trp Single submitter ⚠
p.Arg208Gln Single submitter ⚠
p.Arg230Cys Single submitter ⚠
p.Arg310His Single submitter ⚠
p.Arg313Cys Single submitter ⚠
p.Arg313His Single submitter
p.Arg315Leu Single submitter ⚠
p.Arg383Gln Single submitter ⚠
p.Arg383Trp Single submitter ⚠
p.Arg426Trp Single submitter ⚠
p.Arg445Cys Single submitter ⚠
p.Arg463Gln Single submitter ⚠
p.Arg495Pro Single submitter ⚠
p.Arg56Gln Single submitter ⚠
p.Arg608Gln Single submitter ⚠
p.Arg615Gln Single submitter ⚠
p.Arg615Trp Single submitter ⚠
p.Arg633Gln Single submitter ⚠
p.Arg637Gln Single submitter ⚠
p.Arg653Trp Single submitter ⚠
p.Arg714Gly Single submitter
p.Arg714Trp Single submitter ⚠
p.Arg738His Single submitter ⚠
p.Arg739Leu Single submitter ⚠
p.Arg762Trp Single submitter ⚠
p.Arg780Gly Single submitter ⚠
p.Arg81Trp Single submitter ⚠
p.Arg875His Single submitter ⚠
p.Arg882Gln Single submitter ⚠
p.Arg882Gly Single submitter ⚠
p.Arg906Cys Single submitter ⚠
p.Arg931His Single submitter ⚠
p.Arg931Ser Single submitter ⚠
p.Asn1141His Single submitter ⚠
p.Asn63Asp Single submitter ⚠
p.Asn838Ser Single submitter ⚠
p.Asn924Thr Single submitter ⚠
p.Asp10Tyr Single submitter ⚠
p.Asp546Asn Single submitter ⚠
p.Asp718Asn Single submitter ⚠
p.Asp718Gly Single submitter ⚠
p.Gln1176Glu Single submitter ⚠
p.Gln544His Single submitter ⚠
p.Gln549Pro Single submitter ⚠
p.Glu212Gln Single submitter ⚠
p.Glu508Lys Single submitter ⚠
p.Glu529Lys Single submitter ⚠
p.Glu578Lys Single submitter
p.Glu648Lys Single submitter ⚠
p.Glu890Lys Single submitter ⚠
p.Glu974Lys Single submitter ⚠
p.Glu992Gly Single submitter ⚠
p.Glu992Lys Single submitter ⚠
p.Gly1030Trp Single submitter ⚠
p.Gly1068Ala Single submitter ⚠
p.Gly1093Val Single submitter ⚠
p.Gly1106Asp Single submitter ⚠
p.Gly1106Ser Single submitter ⚠
p.Gly1175Glu Single submitter ⚠
p.Gly11Ser Single submitter ⚠
p.Gly27Arg Single submitter ⚠
p.Gly301Arg Single submitter ⚠
p.Gly334Ala Single submitter
p.Gly630Arg Single submitter ⚠
p.Gly646Asp Single submitter ⚠
p.Gly674Glu Single submitter ⚠
p.Gly829Glu Single submitter ⚠
p.Gly833Arg Single submitter ⚠
p.His336Tyr Single submitter ⚠
p.His364Pro Single submitter
p.His388Tyr Single submitter ⚠
p.Ile814Thr Single submitter ⚠
p.Leu1136His Single submitter ⚠
p.Leu1215Phe Single submitter ⚠
p.Leu238Pro Single submitter ⚠
p.Leu348Val Single submitter
p.Leu552Pro Single submitter ⚠
p.Lys366Glu Single submitter ⚠
p.Lys429Arg Single submitter ⚠
p.Met496Val Single submitter ⚠
p.Phe1015Cys Single submitter ⚠
p.Phe1016Val Single submitter ⚠
p.Pro1019Ser Single submitter ⚠
p.Pro1038Leu Single submitter ⚠
p.Pro1167Leu Single submitter ⚠
p.Pro2Ala Single submitter ⚠
p.Pro424Ala Single submitter ⚠
p.Pro509Leu Single submitter ⚠
p.Pro632Leu Single submitter ⚠
p.Pro691Ala Single submitter ⚠
p.Pro694Arg Single submitter ⚠
p.Pro781Leu Single submitter ⚠
p.Pro792Leu Single submitter ⚠
p.Pro800Leu Single submitter ⚠
p.Pro801Thr Single submitter ⚠
p.Pro832Leu Single submitter ⚠
p.Pro866Arg Single submitter ⚠
p.Pro877Leu Single submitter ⚠
p.Pro956His Single submitter ⚠
p.Pro956Leu Single submitter ⚠
p.Pro975Arg Single submitter ⚠
p.Ser1092Leu Single submitter ⚠
p.Ser26Leu Single submitter ⚠
p.Ser28Phe Single submitter ⚠
p.Ser357Phe Single submitter ⚠
p.Ser423Ile Single submitter
p.Ser432Phe Single submitter ⚠
p.Ser592Asn Single submitter ⚠
p.Ser624Arg Single submitter ⚠
p.Ser643Gly Single submitter ⚠
p.Ser660Pro Single submitter ⚠
p.Ser66Asn Single submitter ⚠
p.Ser67Arg Single submitter ⚠
p.Ser6Cys Single submitter ⚠
p.Ser700Phe Single submitter ⚠
p.Ser861Leu Single submitter ⚠
p.Ser893Asn Single submitter ⚠
p.Ser92Asn Single submitter ⚠
p.Ser934Gly Single submitter ⚠
p.Thr1042Ile Single submitter ⚠
p.Thr1156Ile Single submitter ⚠
p.Thr439Ile Single submitter ⚠
p.Thr858Lys Single submitter ⚠
p.Val1076Ile Single submitter ⚠
p.Val116Met Single submitter ⚠
p.Val254Leu Single submitter ⚠
p.Val311Met Single submitter
p.Val314Met Single submitter
p.Val564Ala Single submitter ⚠
p.Val564Met Single submitter ⚠
p.Val619Met Single submitter ⚠
p.Val641Met Single submitter ⚠
p.Val669Met Single submitter ⚠
p.Val750Ile Single submitter
p.Val913Ile Single submitter ⚠
p.Val922Ile Single submitter ⚠