Viewing single variant in MT-TI

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-TI:m.4268T>C

Tutor Research

Nomenclaturem.4268T>CchrMT:4268|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,432 genomes

MitoTIP

14.9 · Q2 possibly pathogenic

PON-mt-tRNA

0.68 · likely pathogenic

Tutor Research

MITOMAPReported

Live entry

Disease: Maternally inherited hearing lossReported as: homoplasmicGenBank: 0 sequences

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

Where it sits in the mitochondrial genome

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

||||

TCCCCCTCAAACCTAAGAAATATGTCTGATAAAAGAGTTAC

MT-ND1 · ends m.4262

MT-TI · starts m.4263

m.4248–4288 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4268 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-TI →

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.4268T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TI:m.4268T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TI:m.4268T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources