MT-TF:m.578T>C

Tutor Research

Nomenclaturem.578T>CchrMT:578|ClinVar #689805

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,433 genomes

MitoTIP

16.6 · Q1 likely pathogenic

PON-mt-tRNA

0.52 · likely pathogenic

Tutor Research

ClinVarUncertain significance

VCV000689805

Review: reviewed by expert panelSubmitters: 2view ↗Last evaluated: 2024/08/12 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPUncertain significancereported

Live entry

Disease: Unspecified patient from clinical lab · Multiple sclerosis (MS)Reported as: heteroplasmicGenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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CCCAAAGACACCCCCCACAGTTTATGTAGCTTACCTCCTCA

MT-TF · starts m.577

m.558–598 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.578 T→C.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

Open Research Assistant for MT-TF →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.578T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TF:m.578T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TF:m.578T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources