PLAT — 94 ClinVar variants

All ClinVar germline PLAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

1 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 20 Likely benign · 64 Uncertain significance

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

⚑ Evidence disagreements 62

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 44

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

Predictors split 18

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

All PLAT variants

Likely pathogenic 1

p.Thr402_Tyr403insTer Single submitter PLAT-associated disorder

Benign 8

p.Arg561Ter Multiple submitters
p.Ser513= Multiple submitters
p.Thr287= Multiple submitters
p.Arg164Trp Single submitter
p.Asp167= Single submitter
p.His279= Single submitter
p.Ser456= Single submitter
p.Val389= Single submitter

Benign/Likely benign 1

p.Ala493= Multiple submitters

Likely benign 20

p.Ala34Asp Multiple submitters
p.Pro543= Multiple submitters
p.Ser154= Multiple submitters
p.Thr205Asn Multiple submitters
p.Ala195= Single submitter
p.Arg285Lys Single submitter
p.Arg377= Single submitter
p.Arg418His Single submitter
p.Arg524His Single submitter
p.Gly145= Single submitter
p.Ile169Asn Single submitter
p.Ile169Val Single submitter
p.Lys391= Single submitter
p.Phe19= Single submitter
p.Ser417= Single submitter
p.Thr138= Single submitter
p.Thr287Met Single submitter ⚠
p.Tyr191= Single submitter
p.Tyr471His Single submitter ⚠
p.Val425= Single submitter

Uncertain significance 64

p.Arg184Gly Multiple submitters ⚠
p.Val280Met Multiple submitters ⚠
p.Ala100Val Single submitter ⚠
p.Ala142Val Single submitter ⚠
p.Ala155Thr Single submitter ⚠
p.Ala195Val Single submitter ⚠
p.Ala434Glu Single submitter ⚠
p.Arg164Gln Single submitter ⚠
p.Arg284Cys Single submitter ⚠
p.Arg29Gln Single submitter ⚠
p.Arg497Gln Single submitter ⚠
p.Arg65Gln Single submitter ⚠
p.Arg6Ser Single submitter ⚠
p.Asn405Ser Single submitter ⚠
p.Asn551Ser Single submitter ⚠
p.Asp488Tyr Single submitter ⚠
p.Asp522Asn Single submitter ⚠
p.Cys296Ser Single submitter ⚠
p.Gln437His Single submitter ⚠
p.Gln502Lys Single submitter ⚠
p.Gln77Arg Single submitter ⚠
p.Gln77Glu Single submitter ⚠
p.Glu129Lys Single submitter ⚠
p.Glu384Gln Single submitter ⚠
p.Glu422Asp Single submitter ⚠
p.Glu443Ala Single submitter ⚠
p.Glu44Lys Single submitter ⚠
p.Gly132Asp Single submitter ⚠
p.Gly196Arg Single submitter ⚠
p.Gly373Ala Single submitter ⚠
p.Gly450Ser Single submitter ⚠
p.Gly494Ala Single submitter thrombocytopenia ⚠
p.Gly499Ser Single submitter ⚠
p.Gly500Arg Single submitter ⚠
p.His506Gln Single submitter
p.Ile393Thr Single submitter ⚠
p.Ile556Met Single submitter ⚠
p.Leu101Val Single submitter ⚠
p.Lys548Thr Single submitter
p.Met560Leu Single submitter ⚠
p.Pro276Ala Single submitter ⚠
p.Pro276Ser Single submitter pulmonary embolism ⚠
p.Pro365Thr Single submitter ⚠
p.Pro543Leu Single submitter ⚠
p.Ser424Ile Single submitter Deep venous thrombosis ⚠
p.Ser460Leu Single submitter ⚠
p.Ser85Ile Single submitter ⚠
p.Thr126Met Single submitter ⚠
p.Thr149Ile Single submitter ⚠
p.Thr369Met Single submitter ⚠
p.Thr442Ala Single submitter ⚠
p.Thr442Met Single submitter ⚠
p.Thr477Arg Single submitter ⚠
p.Thr496Ile Single submitter ⚠
p.Trp441Cys Single submitter ⚠
p.Trp70Gly Single submitter ⚠
p.Val107Met Single submitter ⚠
p.Val18Ala Single submitter ⚠
p.Val280Gly Single submitter
p.Val394Leu Single submitter ⚠
p.Val528Gly Single submitter ⚠
p.Val545Met Single submitter ⚠
p.Val83Leu Single submitter ⚠
p.Arg35fs No assertion criteria