m.13084A>T AND Leigh syndrome due to mitochondrial complex I deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 10, 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:: RCV000010343.2

Allele description [Variation Report for m.13084A>T]

m.13084A>T

Gene:

MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.13084A>T

Other names:

MTND5, 13084A-T, SER250CYS; S250C

HGVS:

NC_012920.1:m.13084A>T

Protein change:

SER250CYS

Links:

OMIM: 516005.0006; dbSNP: rs267606896

NCBI 1000 Genomes Browser:

rs267606896

Condition(s)

Name:: Leigh syndrome due to mitochondrial complex I deficiency
Identifiers:: MedGen: C1838951

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030569	OMIM	no assertion criteria provided	Pathogenic (Jun 10, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030569

OMIM

no assertion criteria provided

Pathogenic
(Jun 10, 2003)

germline

literature only

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

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

Citations

PubMed

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.

Neurology. 2003 Jun 10;60(11):1857-61.

PubMed [citation]

PMID:: 12796552

Details of each submission

From OMIM, SCV000030569.1

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

Description

In a patient with a progressive neurodegenerative disorder combining features of Leigh (256000) and MELAS (540000) syndromes, Crimi et al. (2003) identified a 13084A-T transversion in the MTND5 gene, resulting in a ser250-to-cys (S250C) substitution. Muscle biopsy revealed partial complex I deficiency (252010). The mutation was detected in a heteroplasmic state in the lymphocytes of the patient's mother (57%), who had migraine and optic atrophy, and younger sister (41%).

#	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

Last Updated: Oct 14, 2023

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