MT-TC — 30 ClinVar variants

All ClinVar germline MT-TC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

18 Benign · 5 Likely benign · 7 Uncertain significance

Full MT-TC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All MT-TC variants

Benign 18

m.5772G>A Single submitter MELAS syndrome
m.5773G>A Single submitter MELAS syndrome
m.5774T>C Single submitter MELAS syndrome
m.5774T>G Single submitter MELAS syndrome
m.5775T>C Single submitter MELAS syndrome
m.5780G>A Single submitter MELAS syndrome
m.5783G>A Single submitter MELAS syndrome
m.5785T>C Single submitter MELAS syndrome
m.5786T>C Single submitter MELAS syndrome
m.5788T>C Single submitter MELAS syndrome
m.5794T>C Single submitter MELAS syndrome
m.5806T>C Single submitter MELAS syndrome
m.5811A>G Single submitter MELAS syndrome
m.5817C>T Single submitter MELAS syndrome
m.5821G>A Single submitter MELAS syndrome
m.5822G>A Single submitter MELAS syndrome
m.5823A>G Single submitter MELAS syndrome
m.5824G>A Single submitter MELAS syndrome

Likely benign 5

m.5814T>C Expert panel mitochondrial disease
m.5786dup Single submitter MELAS syndrome
m.5800A>G Single submitter MELAS syndrome
m.5807A>G Single submitter MELAS syndrome
m.5814T>A Single submitter MELAS syndrome

Uncertain significance 7

m.5816A>G Expert panel mitochondrial disease
m.5791G>A Single submitter MELAS syndrome
m.5793A>G Single submitter MELAS syndrome
m.5802T>C Single submitter MELAS syndrome
m.5804A>G Single submitter MELAS syndrome
m.5809G>A Single submitter MELAS syndrome
m.5819T>C Single submitter MELAS syndrome