U.S. flag

An official website of the United States government

NC_012920.1(MT-ND5):m.12338T>C AND Leber optic atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2011
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:
RCV000022893.4

Allele description [Variation Report for NC_012920.1(MT-ND5):m.12338T>C]

NC_012920.1(MT-ND5):m.12338T>C

Gene:
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ND5):m.12338T>C
Other names:
MTND5, 12338T-C, MET1THR; M1T
HGVS:
  • NC_012920.1:m.12338T>C
  • YP_003024036.1:p.Met1Thr
Protein change:
MET1THR
Links:
OMIM: 516005.0011; dbSNP: rs201863060
NCBI 1000 Genomes Browser:
rs201863060

Condition(s)

Name:
Leber optic atrophy (LHON)
Synonyms:
Optic Atrophy, Hereditary, Leber; Leber hereditary optic neuropathy; Leber's disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044184OMIM
no assertion criteria provided
Pathogenic
(May 1, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.

Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX.

Ophthalmology. 2011 May;118(5):978-85. doi: 10.1016/j.ophtha.2010.09.003. Epub 2010 Dec 4.

PubMed [citation]
PMID:
21131053

Details of each submission

From OMIM, SCV000044184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Liu et al. (2011) investigated the molecular pathogenesis of LHON (535000) in 6 Han Chinese families in which 9 (6 males/3 females) of 86 matrilineal relatives exhibited variable severity and age of onset of optic neuropathy. The average age of onset was 20 years and the penetrance of visual impairment averaged 10.8%. Molecular analysis of mtDNA in these families identified the homoplasmic ND5 12338T-C mutation and a distinct set of variants belonging to the Asian haplogroup F2. The mutation resulted in the replacement of the first amino acid, translation-initiating methionine with a threonine (M1T). This methionine in ND5 is an extraordinarily conserved residue from bacteria to human mitochondria. The 12338T-C mutation was present in the maternal lineage of the 6 pedigrees and not in 178 Chinese controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024