U.S. flag

An official website of the United States government

NC_012920.1(MT-ATP6):m.9185T>C 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:
RCV000010282.10

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9185T>C]

NC_012920.1(MT-ATP6):m.9185T>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.9185T>C
Other names:
MTATP6, 9185T-C, LEU220PRO; L220P
HGVS:
  • NC_012920.1:m.9185T>C
  • NC_012920.1:g.9185T>C
  • m.9185T>C
  • p.Leu220Pro
Protein change:
LEU220PRO
Links:
Genetic Testing Registry (GTR): GTR000500595; OMIM: 516060.0008; dbSNP: rs199476138
NCBI 1000 Genomes Browser:
rs199476138

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

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
SCV000188897GeneReviews
no classification provided
not providedgermlineliterature only

SCV000997508Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))		Pathogenic
(Oct 17, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

Two new mutations in the MTATP6 gene associated with Leigh syndrome.

Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E.

Neuropediatrics. 2005 Oct;36(5):314-8.

PubMed [citation]
PMID:
16217706

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.

Neuropediatrics. 2007 Dec;38(6):313-6. doi: 10.1055/s-2008-1065355.

PubMed [citation]
PMID:
18461509

Details of each submission

From GeneReviews, SCV000188897.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The NC_012920.1:m.9185T>C (YP_003024031.1:p.Leu220Pro) 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

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

Last Updated: Oct 26, 2024