TPM4 — 43 ClinVar variants
All ClinVar germline TPM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
3 Pathogenic · 2 Benign · 5 Likely benign · 33 Uncertain significance
Full TPM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPM4 p.Met91Thr Uncertain significance Multiple submitters
- TPM4 p.Thr72Met Uncertain significance Multiple submitters
- TPM4 p.Ala130Thr Uncertain significance Single submitter
- TPM4 p.Ala130Val Uncertain significance Single submitter
- TPM4 p.Arg131His Uncertain significance Single submitter
- TPM4 p.Arg146His Uncertain significance Single submitter
- TPM4 p.Arg146Leu Uncertain significance Single submitter
- TPM4 p.Arg202His Uncertain significance Single submitter
- TPM4 p.Arg69Gln Uncertain significance Single submitter
- TPM4 p.Arg97Gln Uncertain significance Single submitter
- TPM4 p.Asp48Asn Uncertain significance Single submitter
- TPM4 p.Ile217Thr Uncertain significance Single submitter
- TPM4 p.Leu157Val Uncertain significance Single submitter
- TPM4 p.Val49Met Uncertain significance Single submitter
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TPM4 p.Ala147Val
Uncertain significance
No assertion criteria
Abnormal bleeding
Predictors split 3
The independent predictors disagree with each other — read with care.
All TPM4 variants
Pathogenic 3
- p.Gln108Ter Single submitter bleeding disorder, platelet-type, 25
- p.Arg146Cys No assertion criteria bleeding disorder, platelet-type, 25
- p.Arg69Ter No assertion criteria bleeding disorder, platelet-type, 25
Likely benign 5
- c.266+3A>G Single submitter
- c.266+9G>A Single submitter
- p.Ala147= Single submitter
- p.Ala50= Single submitter
- p.Glu60= Single submitter
Uncertain significance 33
- p.Asp20Val Multiple submitters hereditary breast ovarian cancer syndrome
- p.Met91Thr Multiple submitters ⚠
- p.Thr72Met Multiple submitters ⚠
- c.240+6T>G Single submitter
- c.385-2A>G Single submitter bleeding disorder, platelet-type, 25
- c.*3A>G Single submitter
- p.Ala130Thr Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala173Val Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg146Leu Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Asn17Ser Single submitter
- p.Asn96Ser Single submitter ⚠
- p.Asp194Asn Single submitter
- p.Asp20Asn Single submitter
- p.Asp48Asn Single submitter ⚠
- p.Asp80Gly Single submitter
- p.Cys36Arg Single submitter
- p.Cys36Gly Single submitter
- p.Gln68His Single submitter
- p.Glu61Asp Single submitter ⚠
- p.Ile217Thr Single submitter ⚠
- p.Leu157Val Single submitter ⚠
- p.Leu64Pro Single submitter
- p.Leu71Gln Single submitter
- p.Lys35Thr Single submitter
- p.Met10Thr Single submitter
- p.Val49Met Single submitter ⚠
- p.Ala147Val No assertion criteria Abnormal bleeding ⚠