MT-TC

Chr MT

tRNA-Cys

Also known as: MTTC

NCBI Gene: 4511 ENSG00000210140 OMIM: 590020

This gene encodes mitochondrial tRNA for cysteine, which is essential for protein synthesis within mitochondria and proper functioning of the electron transport chain. Mutations cause encephalomyopathy with variable clinical severity depending on the degree of heteroplasmy. Inheritance follows a maternal pattern as this gene resides in the mitochondrial genome.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical Summary— MT-TC

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Gene-Disease Validity (ClinGen)

mitochondrial disease · MTLimited

Limited evidence — not for standalone diagnostic reporting

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ClinVar Variants

7 VUS of 31 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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GeneReview available — MT-TC

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS7

Likely Benign5

Benign18

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	—	—	—	—	7
Likely Benign	—	—	—	—	5
Benign	—	—	—	—	18
Total	—				30

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

5 pathogenic / likely-pathogenic (of 6) ClinVar copy-number / structural variants overlap MT-TC — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →