MT-TS1:m.7497G>A

Tutor Research

Nomenclaturem.7497G>AchrMT:7497|ClinVar #9569

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

MitoTIP

18.5 · Q1 likely pathogenic

Tutor Research

ClinVarLikely pathogenic

VCV000009569

Review: reviewed by expert panelSubmitters: 5view ↗Last evaluated: 2023/04/17 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPLikely pathogenicconfirmed

Live entry

Disease: Mitochondrial myopathy (MM) · Exercise intolerance (EXIT)Reported as: homoplasmic and heteroplasmicGenBank: 1 sequence

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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TGGTTTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAA

MT-TS1 (L-strand) · ends m.7514

m.7477–7517 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.7497 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-TS1 →

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.7497G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS1:m.7497G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS1:m.7497G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources