MT-TD

Chr MT

tRNA-Asp

Also known as: MTTD

NCBI Gene: 4555 ENSG00000210154 OMIM: 590015

This gene encodes mitochondrial tRNA for aspartic acid, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause mitochondrial myopathy and encephalomyopathy with variable severity depending on the degree of heteroplasmy. Inheritance is maternal through the mitochondrial genome.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical Summary— MT-TD

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Gene-Disease Validity (ClinGen)

mitochondrial disease · MTModerate

Moderate evidence — consider for supplementary testing

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ClinVar Variants

12 VUS of 29 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — MT-TD

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

29 submitted variants in ClinVar

ClinVar

Classification Summary

VUS12

Likely Benign6

Benign11

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	0
Likely Pathogenic	—	—	—	—	0
VUS	—	—	—	—	12
Likely Benign	—	—	—	—	6
Benign	—	—	—	—	11
Total	—				29

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

8 pathogenic / likely-pathogenic (of 8) ClinVar copy-number / structural variants overlap MT-TD — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →