MT-TE

mitochondrially encoded tRNA-Glu (GAA/G), the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:14674-14742

Previous symbols: [ "MTTE" ]

Links

ENSG00000210194 ∙ NCBI:4556 ∙ OMIM:590025 ∙ HGNC:7479 ∙ ∙ ∙ 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
Diabetes and deafness, maternally inherited; Mitochondrial myopathy, infantile, transient; Mitochondrial myopathy with diabetes	Maternal	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Audiologic/Otolaryngologic; Biochemical; Craniofacial; Endocrine; Musculoskeletal; Neurologic; Ophthalmologic	4114165; 7726154; 9353617; 15048886; 19720722; 21194154; 21931168
Mitochondrial variants may involve a variety of sequelae, including hearing impairment

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TE 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-TE

This is a list of pathogenic ClinVar variants found in the MT-TE 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-14680-C-A		not specified	Uncertain significance (May 04, 2022)
M-14681-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-14683-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14684-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14687-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14690-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14691-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-14692-A-G		Diabetes-deafness syndrome maternally transmitted • Mitochondrial disease	Pathogenic (May 04, 2022)
M-14693-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14696-A-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14696-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14701-C-T		See cases • Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Uncertain significance (Sep 24, 2019)
M-14706-A-G		Mild liver congestion;Episodic vomiting;Sudden death • Developmental delay • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14709-T-C		Myopathy, mitochondrial, with diabetes mellitus • Diabetes-deafness syndrome maternally transmitted • Mitochondrial disease • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Inborn mitochondrial myopathy	Likely pathogenic (Jan 23, 2023)
M-14710-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (Dec 15, 2022)
M-14716-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-14724-G-A		Gonadal dysgenesis;Cerebellar ataxia;Abnormal basal ganglia MRI signal intensity;Progressive spastic paraparesis • Mitochondrial disease	Pathogenic (May 04, 2022)
M-14727-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-14729-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-14732-A-G		Familial cancer of breast	Uncertain significance (Aug 29, 2023)
M-14739-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)
M-14743-A-G		Ovarian neoplasm	Uncertain significance (Aug 29, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

• Gene name: mt-Te