Viewing single variant in MT-TM

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

MT-TM:m.4412G>A

Tutor Research

Nomenclaturem.4412G>AchrMT:4412|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,426 genomes

MitoTIP

16.4 · Q1 likely pathogenic

PON-mt-tRNA

0.92 · pathogenic

Tutor Research

MITOMAPReported

Live entry

Disease: Seizures with myopathy & retinopathyReported 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

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

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CCCATCCTAAAGTAAGGTCAGCTAAATAAGCTATCGGGCCC

MT-TQ (L-strand) · ends m.4400

MT-TM · starts m.4402

m.4392–4432 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4412 G→A.

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-TM →

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.4412G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TM:m.4412G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TM:m.4412G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources