MT-TA — 23 ClinVar variants

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

1 Likely pathogenic · 8 Benign · 4 Likely benign · 10 Uncertain significance

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

All MT-TA variants

Likely pathogenic 1

m.5650G>A Expert panel mitochondrial disease

Benign 8

m.5592A>G Single submitter MELAS syndrome
m.5601C>T Single submitter MELAS syndrome
m.5603C>T Single submitter MELAS syndrome
m.5605A>G Single submitter MELAS syndrome
m.5618T>C Single submitter MELAS syndrome
m.5628T>C Single submitter MELAS syndrome
m.5633C>T Single submitter MELAS syndrome
m.5655T>C Single submitter MELAS syndrome

Likely benign 4

m.5600A>G Single submitter MELAS syndrome
m.5604C>T Single submitter MELAS syndrome
m.5608C>T Single submitter MELAS syndrome
m.5640A>G Single submitter MELAS syndrome

Uncertain significance 10

m.5591G>A Expert panel mitochondrial disease
m.5610G>A Expert panel mitochondrial disease
m.5631G>A Expert panel mitochondrial disease
m.5590G>A Single submitter MELAS syndrome
m.5607T>C Single submitter MELAS syndrome
m.5609T>C Single submitter MELAS syndrome
m.5613T>C Single submitter
m.5619G>A Single submitter MELAS syndrome
m.5645G>A Single submitter MELAS syndrome
m.5654T>C Single submitter MELAS syndrome