TPPP — 53 ClinVar variants
All ClinVar germline TPPP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
5 Benign · 1 Benign/Likely benign · 12 Likely benign · 35 Uncertain significance
Full TPPP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPPP p.Ala38Val Uncertain significance Single submitter
- TPPP p.Ala54Thr Uncertain significance Single submitter
- TPPP p.Ala8Ser Uncertain significance Single submitter
- TPPP p.Arg109Pro Uncertain significance Single submitter
- TPPP p.Arg127Leu Uncertain significance Single submitter
- TPPP p.Arg138His Uncertain significance Single submitter
- TPPP p.Arg26Gln Uncertain significance Single submitter
- TPPP p.Asp181His Uncertain significance Single submitter
- TPPP p.Glu198Lys Uncertain significance Single submitter
- TPPP p.Gly188Val Uncertain significance Single submitter
- TPPP p.Gly217Arg Uncertain significance Single submitter
- TPPP p.Gly39Ser Uncertain significance Single submitter
- TPPP p.His141Gln Uncertain significance Single submitter
- TPPP p.Phe55Cys Uncertain significance Single submitter
- TPPP p.Ser132Asn Uncertain significance Single submitter
- TPPP p.Ser35Leu Uncertain significance Single submitter
- TPPP p.Thr155Met Uncertain significance Single submitter
- TPPP p.Thr167Met Uncertain significance Single submitter
- TPPP p.Tyr201Cys Uncertain significance Single submitter
- TPPP p.Val93Ile Uncertain significance Single submitter
- TPPP p.Val99Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- TPPP p.Ala119Gly Uncertain significance Single submitter
- TPPP p.Ala124Thr Uncertain significance Single submitter
- TPPP p.Ala148Glu Uncertain significance Single submitter
- TPPP p.Glu134Lys Uncertain significance Single submitter
- TPPP p.Glu135Val Uncertain significance Single submitter
- TPPP p.Gly204Ser Uncertain significance Single submitter
- TPPP p.Gly73Ser Uncertain significance Single submitter
- TPPP p.Gly88Ser Uncertain significance Single submitter
- TPPP p.Lys156Glu Uncertain significance Single submitter
- TPPP p.Met71Leu Uncertain significance Single submitter
- TPPP p.Ser107Cys Uncertain significance Single submitter
- TPPP p.Ser152Leu Uncertain significance Single submitter
- TPPP p.Ser159Leu Uncertain significance Single submitter
- TPPP p.Ser77Leu Uncertain significance Single submitter
All TPPP variants
Benign 5
- p.Arg57= Multiple submitters
- p.Gly39Ala Multiple submitters
- p.His207= Multiple submitters
- p.Thr167= Multiple submitters
- c.312-22_312-7dup Single submitter
Benign/Likely benign 1
- p.Pro19= Multiple submitters
Likely benign 12
- p.Ala148= Multiple submitters
- c.311+7G>T Single submitter
- c.312-1923C>G Single submitter
- c.312-2084G>C Single submitter
- c.312-2132_312-2085del Single submitter
- c.312-2192T>C Single submitter
- c.312-7_312-6insGCCTGTGCCCTAAGTCGACT Single submitter
- p.Ala64Thr Single submitter
- p.Arg13Lys Single submitter
- p.Thr173= Single submitter
- p.Tyr201= Single submitter
- p.Tyr211= Single submitter
Uncertain significance 35
- p.Ala119Gly Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala148Glu Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala8Ser Single submitter ⚠
- p.Arg109Pro Single submitter ⚠
- p.Arg127Leu Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg26Gln Single submitter ⚠
- p.Asp181His Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu135Val Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Gly188Val Single submitter ⚠
- p.Gly204Ser Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.Gly73Ser Single submitter ⚠
- p.Gly88Ser Single submitter ⚠
- p.His141Gln Single submitter ⚠
- p.Lys156Glu Single submitter ⚠
- p.Met71Leu Single submitter ⚠
- p.Phe55Cys Single submitter ⚠
- p.Ser107Cys Single submitter ⚠
- p.Ser132Asn Single submitter ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser159Leu Single submitter ⚠
- p.Ser35Leu Single submitter ⚠
- p.Ser77Leu Single submitter ⚠
- p.Thr155Met Single submitter ⚠
- p.Thr167Met Single submitter ⚠
- p.Tyr201Cys Single submitter ⚠
- p.Val93Ile Single submitter ⚠
- p.Val99Ile Single submitter ⚠