MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1, the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:7446-7514

Previous symbols: [ "MTTS1" ]

Links

ENSG00000210151 ∙ NCBI:4574 ∙ OMIM:590080 ∙ HGNC:7497 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial disease (Definitive), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, nonsyndromic sensorineural, mitochondrial	Maternal	Audiologic/Otolaryngologic; Pharmacogenomic	Mitochondrial variants may involve a variety of sequelae, including hearing impairment, with highly variable age of onset, and for individuals with early-onset hearing impairment, early recognition and treatment of hearing impairment may improve outcomes, including speech and language development; Aminoglycosides should be avoided	Audiologic/Otolaryngologic; Biochemical; Musculoskeletal; Neurologic; Ophthalmologic	8019558; 10340654; 10371545; 11175301
In some individuals, aminoglycoside administration can result in deafness

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-TS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-TS1

This is a list of pathogenic ClinVar variants found in the MT-TS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
M-7453-G-A		neonatal lactic acidosis • Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic/Likely pathogenic (May 04, 2022)
M-7460-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-7462-C-T		Mitochondrial non-syndromic sensorineural hearing loss • Mitochondrial complex IV deficiency, nuclear type 1	Uncertain significance (May 12, 2024)
M-7465-AC-A		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (May 22, 2023)
M-7465-A-AC		Mitochondrial cytochrome c oxidase deficiency • Deafness, sensorineural, with neurologic features • Mitochondrial non-syndromic sensorineural hearing loss • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Rare genetic deafness • Mitochondrial disease • Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic (Nov 14, 2022)
M-7468-C-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7469-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7471-C-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-7471-C-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign/Likely benign (Jul 12, 2019)
M-7472-A-C		not specified	Uncertain significance (May 04, 2022)
M-7472-A-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign/Likely benign (Jul 12, 2019)
M-7476-C-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Benign (Jan 10, 2022)
M-7478-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-7479-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-7486-G-A		Progressive external ophthalmoplegia	Uncertain significance (Dec 22, 2016)
M-7487-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-7490-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7493-C-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7496-T-C		Myopathy • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-7497-G-A		Exercise intolerance, muscle pain, and lactic acidemia • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial complex IV deficiency, nuclear type 1 • Mitochondrial disease	Likely pathogenic (Apr 17, 2023)
M-7498-G-A		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7499-C-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-7501-T-A		not specified	Uncertain significance (May 04, 2022)
M-7501-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-7502-C-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (Jul 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Aminoacyl-tRNA biosynthesis - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

• Gene name: mt-Ts1