m.8361G>A AND MERRF syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010202.5

Allele description [Variation Report for m.8361G>A]

m.8361G>A

Gene:

MT-TK:mitochondrially encoded tRNA lysine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.8361G>A

Other names:

G8361A

HGVS:

NC_012920.1:m.8361G>A

Nucleotide change:

8361G-A

Links:

Genetic Testing Registry (GTR): GTR000500598; OMIM: 590060.0007; dbSNP: rs118192104

NCBI 1000 Genomes Browser:

rs118192104

Condition(s)

Name:: MERRF syndrome (MERRF)
Synonyms:: Myoclonus with epilepsy with ragged red fibers; Myoclonic epilepsy associated with ragged-red fibers; Fukuhara syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010790; MedGen: C0162672; Orphanet: 551; OMIM: 545000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030425	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000207617	GeneReviews	no classification provided	not provided	maternal	literature only	PubMed (2) [See all records that cite these PMIDs] 14681892, 20301693

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030425

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2003)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000207617

GeneReviews

no classification provided

not provided

maternal

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE.

Ann Neurol. 2003 Dec;54(6):820-3.

PubMed [citation]

PMID:: 14681892

MERRF.

Velez-Bartolomei F, Lee C, Enns G.

2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301693

Details of each submission

From OMIM, SCV000030425.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a boy with the MERRF syndrome (545000), Rossmanith et al. (2003) identified an 8361G-A transition in the MTTK gene, which disrupted a conserved base pairing interaction in the aminoacyl-acceptor stem of the encoded tRNA-lys. The patient was heteroplasmic for the mutation, with skeletal muscle having an 82% load. Age at onset was 6 years, and although he developed most of the classic clinical features of MERRF, he did not have lactic acidosis and he had near normal respiratory chain activity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000207617.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Pathogenic variants identified in approximately 10% of persons w/MERRF

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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