MT-TS1

Chr MT

tRNA-Ser

Also known as: MTTS1

NCBI Gene: 4574 ENSG00000210151 OMIM: 590080

This gene encodes a mitochondrial transfer RNA that incorporates serine into proteins during mitochondrial protein synthesis. Mutations cause non-syndromic sensorineural hearing loss and MERRF-like syndrome, with hearing loss being a common presentation of maternally inherited deafness. Inheritance follows a maternal pattern due to mitochondrial location, and clinical severity depends on the degree of heteroplasmy.

GeneReviews OMIM ResearchSummary from Curated mito context

Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical Summary— MT-TS1

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Gene-Disease Validity (ClinGen)

mitochondrial disease · MTDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

7 unique Pathogenic / Likely Pathogenic· 15 VUS of 34 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — MT-TS1

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic5

VUS15

Likely Benign5

Benign7

Pathogenic

Likely Pathogenic

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	—	—	—	—	2
Likely Pathogenic	—	—	—	—	5
VUS	—	—	—	—	15
Likely Benign	—	—	—	—	5
Benign	—	—	—	—	7
Total	—				34

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

8 pathogenic / likely-pathogenic (of 8) ClinVar copy-number / structural variants overlap MT-TS1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →