AMTN — 31 ClinVar variants
All ClinVar germline AMTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Pathogenic · 5 Benign · 3 Likely benign · 22 Uncertain significance
Full AMTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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.
- AMTN p.Ala155Thr Uncertain significance Single submitter
- AMTN p.Ala188Ser Uncertain significance Single submitter
- AMTN p.Ala205Thr Uncertain significance Single submitter
-
AMTN p.Arg171His
Uncertain significance
Single submitter
amelogenesis imperfecta, type 3A
- AMTN p.Arg2Thr Uncertain significance Single submitter
- AMTN p.Gly157Glu Uncertain significance Single submitter
- AMTN p.Gly25Arg Uncertain significance Single submitter
- AMTN p.Gly78Asp Uncertain significance Single submitter
- AMTN p.His82Asn Uncertain significance Single submitter
- AMTN p.His98Asp Uncertain significance Single submitter
- AMTN p.His98Tyr Uncertain significance Single submitter
- AMTN p.Ile136Phe Uncertain significance Single submitter
- AMTN p.Pro27Ser Uncertain significance Single submitter
- AMTN p.Ser193Asn Uncertain significance Single submitter
- AMTN p.Thr85Asn Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- AMTN p.Leu119Ser Uncertain significance Single submitter
- AMTN p.Leu84Trp Uncertain significance Single submitter
- AMTN p.Thr186Asn Uncertain significance Single submitter
- AMTN p.Thr194Ile Uncertain significance Single submitter
- AMTN p.Thr194Lys Uncertain significance Single submitter
- AMTN p.Thr201Asn Uncertain significance Single submitter
- AMTN p.Thr201Ile Uncertain significance Single submitter
-
AMTN p.Gly88Glu
Likely benign
No assertion criteria
AMTN-related disorder
All AMTN variants
Pathogenic 1
- c.54+1348_330+98delinsCTCA No assertion criteria amelogenesis imperfecta type 3B
Benign 5
- p.Gly177Val Multiple submitters
- c.205-7C>T No assertion criteria AMTN-related disorder
- c.-7C>T No assertion criteria AMTN-related disorder
- p.Arg15Trp No assertion criteria AMTN-related disorder
- p.Ser50Pro No assertion criteria AMTN-related disorder
Likely benign 3
- p.His96Gln Single submitter
- p.Thr4Met Single submitter
- p.Gly88Glu No assertion criteria AMTN-related disorder ⚠
Uncertain significance 22
- p.Ala155Thr Single submitter ⚠
- p.Ala188Ser Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Arg171His Single submitter amelogenesis imperfecta, type 3A ⚠
- p.Arg2Thr Single submitter ⚠
- p.Gly157Glu Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly78Asp Single submitter ⚠
- p.His82Asn Single submitter ⚠
- p.His98Asp Single submitter ⚠
- p.His98Tyr Single submitter ⚠
- p.Ile136Phe Single submitter ⚠
- p.Leu119Ser Single submitter ⚠
- p.Leu84Trp Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Ser193Asn Single submitter ⚠
- p.Thr186Asn Single submitter ⚠
- p.Thr194Ile Single submitter ⚠
- p.Thr194Lys Single submitter ⚠
- p.Thr201Asn Single submitter ⚠
- p.Thr201Ile Single submitter ⚠
- p.Thr85Asn Single submitter ⚠