NC_012920.1(MT-ATP6):m.9101T>C AND Leber optic atrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 1, 1995
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:: RCV000010277.4

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9101T>C]

NC_012920.1(MT-ATP6):m.9101T>C

Gene:

MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP6):m.9101T>C

Other names:

MTATP6, 9101T-C, ILE192THR; I192T

HGVS:

NC_012920.1:m.9101T>C
AC_000021.2:m.9101T>C

Protein change:

ILE192THR

Links:

OMIM: 516060.0003; dbSNP: rs199476134

NCBI 1000 Genomes Browser:

rs199476134

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030501	OMIM	no assertion criteria provided	Pathogenic (May 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000086641	GeneReviews	no classification provided	not provided	maternal	literature only	PubMed (2) [See all records that cite these PMIDs] 30143805, 20301353

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030501

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1995)

germline

literature only

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

SCV000086641

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	maternal	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

Lamminen T, Majander A, Juvonen V, Wikström M, Aula P, Nikoskelainen E, Savontous ML.

Am J Hum Genet. 1995 May;56(5):1238-40. No abstract available.

PubMed [citation]

PMID:: 7726182
PMCID:: PMC1801467

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PubMed [citation]

PMID:: 30143805
PMCID:: PMC6460557

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000030501.1

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

Description

In 1 of 24 Finnish Leber hereditary optic atrophy (535000) families, Lamminen et al. (1995) found a single affected male with a typical acute stage with peripapillary microangiopathy; onset was at age 21. A T-to-C base substitution at nucleotide 9101 in the MTATP6 gene was found that resulted in the replacement of an isoleucine by a threonine at residue 192. Using restriction site changes resulting from the base substitution, the mutation was detected in all maternal members of the proband's family but not in other individuals tested and was not found in any of the other Finnish LHON families or in 100 unrelated control individuals of Finnish origin.

#	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, SCV000086641.3

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

#	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: May 19, 2024

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