MT-TF — 39 ClinVar variants
All ClinVar germline MT-TF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 14 Benign · 1 Benign/Likely benign · 6 Likely benign · 14 Uncertain significance
Full MT-TF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MT-TF variants
Pathogenic 1
- m.15C>T Single submitter MT-TF-related mito tubulointerstitial kidney disease (MITKD)
Likely pathogenic 2
Conflicting classifications of pathogenicity 1
- m.588T>C Single submitter MELAS syndrome
Benign 14
- m.592C>T Single submitter MELAS syndrome
- m.593T>C Single submitter MELAS syndrome
- m.595dup Single submitter MELAS syndrome
- m.596T>C Single submitter MELAS syndrome
- m.597C>T Single submitter MELAS syndrome
- m.606A>G Single submitter MELAS syndrome
- m.619T>C Single submitter MELAS syndrome
- m.630C>T Single submitter MELAS syndrome
- m.633A>G Single submitter MELAS syndrome
- m.634T>A Single submitter MELAS syndrome
- m.634T>C Single submitter MELAS syndrome
- m.635C>T Single submitter MELAS syndrome
- m.644A>G Single submitter MELAS syndrome
- m.647A>G Single submitter MELAS syndrome
Benign/Likely benign 1
- m.629T>C Multiple submitters MELAS syndrome
Likely benign 6
Uncertain significance 14
- m.578T>C Expert panel mitochondrial disease
- m.583G>A Expert panel mitochondrial disease
- m.586G>A Expert panel mitochondrial disease
- m.590A>G Expert panel mitochondrial disease
- m.608A>G Expert panel mitochondrial disease
- m.611G>A Expert panel mitochondrial disease
- m.616T>G Expert panel mitochondrial disease
- m.618T>C Expert panel mitochondrial disease
- m.622G>A Expert panel mitochondrial disease
- m.643A>G Multiple submitters MELAS syndrome
- m.579T>C Single submitter MELAS syndrome
- m.624C>T Single submitter MELAS syndrome
- m.628C>T Single submitter MELAS syndrome
- m.636A>G Single submitter