MTX1 — 18 ClinVar variants
All ClinVar germline MTX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Benign · 17 Uncertain significance
Full MTX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MTX1 p.Ala71Gly Uncertain significance Single submitter
- MTX1 p.Arg38Leu Uncertain significance Single submitter
- MTX1 p.Arg53Gln Uncertain significance Single submitter
- MTX1 p.Arg60Ser Uncertain significance Single submitter
- MTX1 p.Gly162Cys Uncertain significance Single submitter
- MTX1 p.Gly51Ala Uncertain significance Single submitter
- MTX1 p.Leu156Gln Uncertain significance Single submitter
- MTX1 p.Pro69Ser Uncertain significance Single submitter
- MTX1 p.Pro7Ser Uncertain significance Single submitter
- MTX1 p.Ser15Arg Uncertain significance Single submitter
- MTX1 p.Trp20Cys Uncertain significance Single submitter
All MTX1 variants
Benign 1
- p.Ser63Thr Single submitter
Uncertain significance 17
- c.528+101G>C Single submitter
- c.528+169G>T Single submitter
- c.528+260T>C Single submitter
- c.528+289C>T Single submitter
- c.528+307G>A Single submitter
- c.528+35T>C Single submitter
- p.Ala71Gly Single submitter ⚠
- p.Arg38Leu Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg60Ser Single submitter ⚠
- p.Gly162Cys Single submitter ⚠
- p.Gly51Ala Single submitter ⚠
- p.Leu156Gln Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro7Ser Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Trp20Cys Single submitter ⚠