AS3MT — 35 ClinVar variants
All ClinVar germline AS3MT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 34 Uncertain significance
Full AS3MT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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.
- AS3MT p.Ala142Ser Uncertain significance Single submitter
- AS3MT p.Ala336Thr Uncertain significance Single submitter
- AS3MT p.Cys85Phe Uncertain significance Single submitter
- AS3MT p.Gln221Lys Uncertain significance Single submitter
- AS3MT p.Gln317Arg Uncertain significance Single submitter
- AS3MT p.Glu191Val Uncertain significance Single submitter
- AS3MT p.Glu352Gln Uncertain significance Single submitter
- AS3MT p.Gly208Ser Uncertain significance Single submitter
- AS3MT p.Gly31Ser Uncertain significance Single submitter
- AS3MT p.Gly367Ser Uncertain significance Single submitter
- AS3MT p.Ile279Val Uncertain significance Single submitter
- AS3MT p.Ile324Thr Uncertain significance Single submitter
- AS3MT p.Ile74Val Uncertain significance Single submitter
- AS3MT p.Ile9Leu Uncertain significance Single submitter
- AS3MT p.Leu235Pro Uncertain significance Single submitter
- AS3MT p.Leu349Phe Uncertain significance Single submitter
- AS3MT p.Met119Val Uncertain significance Single submitter
- AS3MT p.Phe225Ser Uncertain significance Single submitter
- AS3MT p.Ser189Thr Uncertain significance Single submitter
- AS3MT p.Ser355Arg Uncertain significance Single submitter
- AS3MT p.Val186Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- AS3MT p.Asp345Gly Uncertain significance Single submitter
- AS3MT p.Gln90His Uncertain significance Single submitter
- AS3MT p.Glu351Lys Uncertain significance Single submitter
- AS3MT p.Ile279Asn Uncertain significance Single submitter
- AS3MT p.Ile321Thr Uncertain significance Single submitter
- AS3MT p.Leu88Phe Uncertain significance Single submitter
- AS3MT p.Pro66Ser Uncertain significance Single submitter
- AS3MT p.Thr104Ser Uncertain significance Single submitter
- AS3MT p.Thr232Pro Uncertain significance Single submitter
- AS3MT p.Tyr117His Uncertain significance Single submitter
- AS3MT p.Val161Leu Uncertain significance Single submitter
- AS3MT p.Val167Ala Uncertain significance Single submitter
- AS3MT p.Val273Ala Uncertain significance Single submitter
All AS3MT variants
Benign 1
- c.43-10G>T Single submitter
Uncertain significance 34
- p.Ala142Ser Single submitter ⚠
- p.Ala336Thr Single submitter ⚠
- p.Asp345Gly Single submitter ⚠
- p.Cys85Phe Single submitter ⚠
- p.Gln221Lys Single submitter ⚠
- p.Gln317Arg Single submitter ⚠
- p.Gln90His Single submitter ⚠
- p.Glu191Val Single submitter ⚠
- p.Glu351Lys Single submitter ⚠
- p.Glu352Gln Single submitter ⚠
- p.Gly208Ser Single submitter ⚠
- p.Gly31Ser Single submitter ⚠
- p.Gly367Ser Single submitter ⚠
- p.Ile279Asn Single submitter ⚠
- p.Ile279Val Single submitter ⚠
- p.Ile321Thr Single submitter ⚠
- p.Ile324Thr Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Ile9Leu Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Leu349Phe Single submitter ⚠
- p.Leu88Phe Single submitter ⚠
- p.Met119Val Single submitter ⚠
- p.Phe225Ser Single submitter ⚠
- p.Pro66Ser Single submitter ⚠
- p.Ser189Thr Single submitter ⚠
- p.Ser355Arg Single submitter ⚠
- p.Thr104Ser Single submitter ⚠
- p.Thr232Pro Single submitter ⚠
- p.Tyr117His Single submitter ⚠
- p.Val161Leu Single submitter ⚠
- p.Val167Ala Single submitter ⚠
- p.Val186Ile Single submitter ⚠
- p.Val273Ala Single submitter ⚠