MT-TH

mitochondrially encoded tRNA-His (CAU/C), the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:12138-12206

Previous symbols: [ "MTTH" ]

Links

ENSG00000210176 ∙ NCBI:4564 ∙ OMIM:590040 ∙ HGNC:7487 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, nonsyndromic, sensorineural	Maternal	Audiologic/Otolaryngologic	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	Audiologic/Otolaryngologic; Biochemical; Gastrointestinal; Musculoskeletal; Neurologic	14967777; 21931169
As with other forms of epilepsy, optimal seizure control is advantageous, and genetic diagnosis may aid with medication selection

ClinVar

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

Variants pathogenicity by type

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

This is a list of pathogenic ClinVar variants found in the MT-TH 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-12141-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12142-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12143-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12144-A-G		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12146-A-G		not specified • MELAS syndrome	Uncertain significance (May 04, 2022)
M-12147-G-A		MERRF/MELAS overlap syndrome • MELAS syndrome • Mitochondrial disease	Likely pathogenic (Jan 09, 2023)
M-12148-T-C		MELAS syndrome	Likely pathogenic (Jul 12, 2019)
M-12150-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12151-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12153-C-T		MELAS syndrome	Conflicting classifications of pathogenicity (Jul 12, 2019)
M-12160-A-G		MELAS syndrome	Likely benign (Jul 12, 2019)
M-12161-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12163-A-G		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12164-G-A		MELAS syndrome	Likely benign (Jul 12, 2019)
M-12166-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12170-G-A		mtDNA-related disorders	not provided (-)
M-12171-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12172-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12173-T-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12173-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12175-T-C		MELAS syndrome	Conflicting classifications of pathogenicity (Jul 12, 2019)
M-12176-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12177-A-G			Uncertain significance (Aug 14, 2017)
M-12178-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-12181-C-T		MELAS syndrome	Likely benign (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

• Gene name: mt-Th