NC_012920.1(MT-ATP6):m.9176T>G AND Leigh syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 17, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000010285.10

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9176T>G]

NC_012920.1(MT-ATP6):m.9176T>G

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.9176T>G

Other names:

MTATP6, 9176T-G, LEU217ARG; L217R

HGVS:

NC_012920.1:m.9176T>G
m.9176T>G
p.Leu271Arg

Protein change:

LEU217ARG

Links:

Genetic Testing Registry (GTR): GTR000500595; OMIM: 516060.0011; dbSNP: rs199476135

NCBI 1000 Genomes Browser:

rs199476135

Condition(s)

Name:: Leigh syndrome (NULS)
Synonyms:: Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188896	GeneReviews	no classification provided	not provided	germline	literature only
SCV000997503	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Pathogenic (Oct 17, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11731285, 11119722, 11382202 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188896

GeneReviews

no classification provided

not provided

germline

literature only

SCV000997503

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Pathogenic
(Oct 17, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.

Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I, Okada S.

Neuromuscul Disord. 2002 Jan;12(1):53-5.

PubMed [citation]

PMID:: 11731285

The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.

Carrozzo R, Murray J, Santorelli FM, Capaldi RA.

FEBS Lett. 2000 Dec 15;486(3):297-9.

PubMed [citation]

PMID:: 11119722

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000188896.5

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

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

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997503.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The NC_012920.1:m.9176T>G (YP_003024031.1:p.Leu217Arg) variant in MTATP6 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM9, PM10, PP3, PP4, PP7

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

Last Updated: Jun 23, 2024

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