TMT1A — 38 ClinVar variants
All ClinVar germline TMT1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Likely benign · 37 Uncertain significance
Full TMT1A 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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMT1A p.Ala194Thr Uncertain significance Single submitter
- TMT1A p.Arg121His Uncertain significance Single submitter
- TMT1A p.Arg158Cys Uncertain significance Single submitter
- TMT1A p.Arg158His Uncertain significance Single submitter
- TMT1A p.Asn100Ile Uncertain significance Single submitter
- TMT1A p.Cys148Gly Uncertain significance Single submitter
- TMT1A p.Cys161Gly Uncertain significance Single submitter
- TMT1A p.Cys202Tyr Uncertain significance Single submitter
- TMT1A p.Cys79Ser Uncertain significance Single submitter
- TMT1A p.Glu179Gly Uncertain significance Single submitter
- TMT1A p.Glu207Asp Uncertain significance Single submitter
- TMT1A p.Glu213Lys Uncertain significance Single submitter
- TMT1A p.Ile225Val Uncertain significance Single submitter
- TMT1A p.Ile97Thr Uncertain significance Single submitter
- TMT1A p.Leu220Met Uncertain significance Single submitter
- TMT1A p.Leu75Pro Uncertain significance Single submitter
- TMT1A p.Lys210Arg Uncertain significance Single submitter
- TMT1A p.Met51Thr Uncertain significance Single submitter
- TMT1A p.Phe85Ser Uncertain significance Single submitter
- TMT1A p.Pro68Leu Uncertain significance Single submitter
- TMT1A p.Pro99Arg Uncertain significance Single submitter
- TMT1A p.Ser137Pro Uncertain significance Single submitter
- TMT1A p.Ser181Leu Uncertain significance Single submitter
- TMT1A p.Ser60Asn Uncertain significance Single submitter
- TMT1A p.Thr16Ser Uncertain significance Single submitter
- TMT1A p.Thr182Ser Uncertain significance Single submitter
- TMT1A p.Tyr185His Uncertain significance Single submitter
- TMT1A p.Tyr239Cys Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- TMT1A p.Arg155Trp Uncertain significance Single submitter
- TMT1A p.Leu10Pro Uncertain significance Single submitter
- TMT1A p.Leu25Arg Uncertain significance Single submitter
- TMT1A p.Phe119Ser Uncertain significance Single submitter
- TMT1A p.Pro166Leu Uncertain significance Single submitter
- TMT1A p.Ser208Gly Uncertain significance Single submitter
- TMT1A p.Val243Ala Uncertain significance Single submitter
All TMT1A variants
Likely benign 1
- p.Arg214Gln Single submitter
Uncertain significance 37
- p.Ala194Thr Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg155Trp Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Asn100Ile Single submitter ⚠
- p.Cys148Gly Single submitter ⚠
- p.Cys161Gly Single submitter ⚠
- p.Cys202Tyr Single submitter ⚠
- p.Cys79Ser Single submitter ⚠
- p.Glu179Gly Single submitter ⚠
- p.Glu207Asp Single submitter ⚠
- p.Glu213Lys Single submitter ⚠
- p.Ile225Val Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu220Met Single submitter ⚠
- p.Leu25Arg Single submitter ⚠
- p.Leu72Pro Single submitter
- p.Leu75Pro Single submitter ⚠
- p.Lys210Arg Single submitter ⚠
- p.Met51Thr Single submitter ⚠
- p.Phe119Ser Single submitter ⚠
- p.Phe65Ser Single submitter
- p.Phe85Ser Single submitter ⚠
- p.Pro166Leu Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro99Arg Single submitter ⚠
- p.Ser137Pro Single submitter ⚠
- p.Ser181Leu Single submitter ⚠
- p.Ser208Gly Single submitter ⚠
- p.Ser60Asn Single submitter ⚠
- p.Thr16Ser Single submitter ⚠
- p.Thr182Ser Single submitter ⚠
- p.Tyr185His Single submitter ⚠
- p.Tyr239Cys Single submitter ⚠
- p.Val243Ala Single submitter ⚠