TPSG1 — 89 ClinVar variants

All ClinVar germline TPSG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

1 Conflicting · 2 Benign · 12 Likely benign · 74 Uncertain significance

Full TPSG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 1

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

TPSG1 p.Leu282Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 57

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

Predictors split 14

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

All TPSG1 variants

Conflicting classifications of pathogenicity 1

p.Leu282Ile Single submitter ⚠

Benign 2

p.Val262Met Multiple submitters
p.Ile126= Single submitter

Likely benign 12

p.Ala233Thr Single submitter
p.Arg212Gln Single submitter
p.Arg266His Single submitter
p.Arg28Gln Single submitter
p.Asp220= Single submitter
p.Gly170Arg Single submitter
p.Ile141Val Single submitter
p.Lys183Glu Single submitter
p.Pro15= Single submitter
p.Pro320fs Single submitter
p.Ser139= Single submitter
p.Thr270Pro Single submitter ⚠

Uncertain significance 74

p.Ala271Ser Single submitter ⚠
p.Ala286Thr Single submitter ⚠
p.Ala2Pro Single submitter ⚠
p.Ala312Thr Single submitter ⚠
p.Ala312Val Single submitter ⚠
p.Ala319Gly Single submitter ⚠
p.Ala44Pro Single submitter
p.Ala48Thr Single submitter ⚠
p.Arg140Gln Single submitter ⚠
p.Arg158Trp Single submitter ⚠
p.Arg180Trp Single submitter ⚠
p.Arg193Cys Single submitter ⚠
p.Arg20Gly Single submitter ⚠
p.Arg212Trp Single submitter ⚠
p.Arg248Cys Single submitter ⚠
p.Arg251Lys Single submitter ⚠
p.Arg257Cys Single submitter ⚠
p.Arg266Cys Single submitter ⚠
p.Arg267His Single submitter ⚠
p.Arg37Trp Single submitter ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter ⚠
p.Asp125Glu Single submitter ⚠
p.Asp151Asn Single submitter ⚠
p.Asp88His Single submitter ⚠
p.Cys159Arg Single submitter ⚠
p.Cys192Arg Single submitter ⚠
p.Cys192Phe Single submitter ⚠
p.Cys210Arg Single submitter ⚠
p.Cys306Tyr Single submitter ⚠
p.Gln109His Single submitter ⚠
p.Glu130Asp Single submitter ⚠
p.Glu148Lys Single submitter ⚠
p.Glu244Asp Single submitter ⚠
p.Glu276Lys Single submitter ⚠
p.Gly163Asp Single submitter ⚠
p.Gly200Arg Single submitter ⚠
p.Gly215Arg Single submitter ⚠
p.Gly223Arg Single submitter
p.Gly232Ser Single submitter ⚠
p.Gly243Cys Single submitter ⚠
p.Gly278Arg Single submitter ⚠
p.Gly40Glu Single submitter ⚠
p.Gly41Ala Single submitter ⚠
p.Gly41Val Single submitter
p.Gly64Ser Single submitter ⚠
p.His61Gln Single submitter ⚠
p.Leu179Pro Single submitter ⚠
p.Leu293Phe Single submitter ⚠
p.Leu296Pro Single submitter ⚠
p.Leu8Phe Single submitter ⚠
p.Phe289Leu Single submitter ⚠
p.Pro147Arg Single submitter ⚠
p.Pro147Ser Single submitter
p.Pro174Leu Single submitter ⚠
p.Pro24Arg Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Pro252Leu Single submitter ⚠
p.Pro259Ala Single submitter ⚠
p.Pro291Leu Single submitter ⚠
p.Pro29Arg Single submitter ⚠
p.Pro29Gln Single submitter ⚠
p.Ser123Asn Single submitter ⚠
p.Ser132Arg Single submitter ⚠
p.Ser178Asn Single submitter ⚠
p.Ser178Cys Single submitter ⚠
p.Ser277Thr Single submitter ⚠
p.Thr167Met Single submitter ⚠
p.Thr21Ser Single submitter ⚠
p.Thr256Ile Single submitter ⚠
p.Trp264Arg Single submitter ⚠
p.Val135Met Single submitter ⚠
p.Val235Gly Single submitter ⚠
p.Val62Met Single submitter ⚠