MTF1 — 76 ClinVar variants
All ClinVar germline MTF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
3 Benign · 12 Likely benign · 61 Uncertain significance
Full MTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MTF1 p.Ala439Pro Uncertain significance Single submitter
- MTF1 p.Ala457Val Uncertain significance Single submitter
- MTF1 p.Ala491Thr Uncertain significance Single submitter
- MTF1 p.Ala509Thr Uncertain significance Single submitter
- MTF1 p.Ala510Val Uncertain significance Single submitter
- MTF1 p.Ala642Thr Uncertain significance Single submitter
- MTF1 p.Ala675Glu Uncertain significance Single submitter
- MTF1 p.Ala675Val Uncertain significance Single submitter
- MTF1 p.Ala714Ser Uncertain significance Single submitter
- MTF1 p.Arg645Gln Uncertain significance Single submitter
- MTF1 p.Arg645Trp Uncertain significance Single submitter
- MTF1 p.Arg699Gln Uncertain significance Single submitter
- MTF1 p.Asn413Asp Uncertain significance Single submitter
- MTF1 p.Asp262Asn Uncertain significance Single submitter
- MTF1 p.Asp60Val Uncertain significance Single submitter
- MTF1 p.Cys207Phe Uncertain significance Single submitter
- MTF1 p.Gln102Arg Uncertain significance Single submitter
- MTF1 p.Gln360His Uncertain significance Single submitter
- MTF1 p.Gln493His Uncertain significance Single submitter
- MTF1 p.Gln523Pro Uncertain significance Single submitter
- MTF1 p.Gln664Arg Uncertain significance Single submitter
- MTF1 p.Glu429Lys Uncertain significance Single submitter
- MTF1 p.Gly65Arg Uncertain significance Single submitter
- MTF1 p.Gly685Arg Uncertain significance Single submitter
- MTF1 p.Gly741Val Uncertain significance Single submitter
- MTF1 p.Gly746Ser Uncertain significance Single submitter
- MTF1 p.His82Tyr Uncertain significance Single submitter
- MTF1 p.Ile365Val Uncertain significance Single submitter
- MTF1 p.Ile575Met Uncertain significance Single submitter
- MTF1 p.Ile735Thr Uncertain significance Single submitter
- MTF1 p.Ile84Thr Uncertain significance Single submitter
- MTF1 p.Ile84Val Uncertain significance Single submitter
- MTF1 p.Leu417Phe Uncertain significance Single submitter
- MTF1 p.Leu464Phe Uncertain significance Single submitter
- MTF1 p.Leu565Ile Uncertain significance Single submitter
- MTF1 p.Phe678Ser Uncertain significance Single submitter
- MTF1 p.Pro408Ala Uncertain significance Single submitter
- MTF1 p.Pro408Leu Uncertain significance Single submitter
- MTF1 p.Pro430Thr Uncertain significance Single submitter
- MTF1 p.Pro443Ser Uncertain significance Single submitter
- MTF1 p.Pro444Leu Uncertain significance Single submitter
- MTF1 p.Pro487Leu Uncertain significance Single submitter
- MTF1 p.Pro492Leu Uncertain significance Single submitter
- MTF1 p.Pro530Ala Uncertain significance Single submitter
- MTF1 p.Pro658Ala Uncertain significance Single submitter
- MTF1 p.Pro684Arg Uncertain significance Single submitter
- MTF1 p.Ser319Leu Uncertain significance Single submitter
- MTF1 p.Ser355Gly Uncertain significance Single submitter
- MTF1 p.Ser416Pro Uncertain significance Single submitter
- MTF1 p.Ser608Gly Uncertain significance Single submitter
- MTF1 p.Ser688Phe Uncertain significance Single submitter
- MTF1 p.Thr21Ile Uncertain significance Single submitter
- MTF1 p.Thr356Met Uncertain significance Single submitter
- MTF1 p.Thr525Ala Uncertain significance Single submitter
- MTF1 p.Thr526Ala Uncertain significance Single submitter
- MTF1 p.Thr57Asn Uncertain significance Single submitter
- MTF1 p.Val407Phe Uncertain significance Single submitter
- MTF1 p.Val516Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All MTF1 variants
Benign 3
- p.Asp63Glu Single submitter
- p.Gly68= Single submitter
- p.Pro440Ser Single submitter
Likely benign 12
- p.Thr228= Multiple submitters
- p.Thr364Ile Multiple submitters
- c.1172-7T>C Single submitter
- c.854-14T>C Single submitter
- p.Arg260= Single submitter
- p.Asn321Ser Single submitter
- p.Gln141= Single submitter
- p.Leu721= Single submitter
- p.Pro408= Single submitter
- p.Pro445Ser Single submitter
- p.Ser366= Single submitter
- p.Thr555= Single submitter
Uncertain significance 61
- p.Ala439Pro Single submitter ⚠
- p.Ala457Val Single submitter ⚠
- p.Ala491Thr Single submitter ⚠
- p.Ala509Thr Single submitter ⚠
- p.Ala510Val Single submitter ⚠
- p.Ala642Thr Single submitter ⚠
- p.Ala675Glu Single submitter ⚠
- p.Ala675Val Single submitter ⚠
- p.Ala714Ser Single submitter ⚠
- p.Arg351Ter Single submitter autism spectrum disorder
- p.Arg645Gln Single submitter ⚠
- p.Arg645Trp Single submitter ⚠
- p.Arg699Gln Single submitter ⚠
- p.Asn413Asp Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp60Val Single submitter ⚠
- p.Cys207Phe Single submitter ⚠
- p.Gln102Arg Single submitter ⚠
- p.Gln360His Single submitter ⚠
- p.Gln493His Single submitter ⚠
- p.Gln523Pro Single submitter ⚠
- p.Gln664Arg Single submitter ⚠
- p.Glu429Lys Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Gly685Arg Single submitter ⚠
- p.Gly741Val Single submitter ⚠
- p.Gly746Ser Single submitter ⚠
- p.His82Tyr Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Ile575Met Single submitter ⚠
- p.Ile735Asn Single submitter ⚠
- p.Ile735Thr Single submitter ⚠
- p.Ile84Thr Single submitter ⚠
- p.Ile84Val Single submitter ⚠
- p.Leu417Phe Single submitter ⚠
- p.Leu464Phe Single submitter ⚠
- p.Leu565Ile Single submitter ⚠
- p.Phe678Ser Single submitter ⚠
- p.Pro408Ala Single submitter ⚠
- p.Pro408Leu Single submitter ⚠
- p.Pro430Thr Single submitter ⚠
- p.Pro443Ser Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Pro487Leu Single submitter ⚠
- p.Pro492Leu Single submitter ⚠
- p.Pro530Ala Single submitter ⚠
- p.Pro548Arg Single submitter
- p.Pro658Ala Single submitter ⚠
- p.Pro684Arg Single submitter ⚠
- p.Ser319Leu Single submitter ⚠
- p.Ser355Gly Single submitter ⚠
- p.Ser416Pro Single submitter ⚠
- p.Ser608Gly Single submitter ⚠
- p.Ser688Phe Single submitter ⚠
- p.Thr21Ile Single submitter ⚠
- p.Thr356Met Single submitter ⚠
- p.Thr525Ala Single submitter ⚠
- p.Thr526Ala Single submitter ⚠
- p.Thr57Asn Single submitter ⚠
- p.Val407Phe Single submitter ⚠
- p.Val516Leu Single submitter ⚠