NC_012920.1(MT-ATP6):m.8993T>G AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: May 27, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000224643.10

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8993T>G]

NC_012920.1(MT-ATP6):m.8993T>G

Genes:

MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
MT-ND2:mitochondrially encoded NADH dehydrogenase 2 [Gene - OMIM - HGNC]
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
MT-CO2:mitochondrially encoded cytochrome c oxidase II [Gene - OMIM - HGNC]
MT-TD:mitochondrially encoded tRNA aspartic acid [Gene - OMIM - HGNC]
MT-TI:mitochondrially encoded tRNA isoleucine [Gene - OMIM - HGNC]
MT-TK:mitochondrially encoded tRNA lysine [Gene - OMIM - HGNC]
MT-TM:mitochondrially encoded tRNA methionine [Gene - OMIM - HGNC]
MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]
MT-ND3:mitochondrially encoded NADH dehydrogenase 3 [Gene - OMIM - HGNC]
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
MT-ND4L:mitochondrially encoded NADH dehydrogenase 4L [Gene - OMIM - HGNC]
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
MT-CO3:mitochondrially encoded cytochrome c oxidase III [Gene - OMIM - HGNC]
MT-TA:mitochondrially encoded tRNA alanine [Gene - OMIM - HGNC]
MT-TR:mitochondrially encoded tRNA arginine [Gene - OMIM - HGNC]
MT-TN:mitochondrially encoded tRNA asparagine [Gene - OMIM - HGNC]
MT-TC:mitochondrially encoded tRNA cysteine [Gene - OMIM - HGNC]
MT-TQ:mitochondrially encoded tRNA glutamine [Gene - OMIM - HGNC]
MT-TG:mitochondrially encoded tRNA glycine [Gene - OMIM - HGNC]
MT-TH:mitochondrially encoded tRNA histidine [Gene - OMIM - HGNC]
MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
MT-TS2:mitochondrially encoded tRNA serine 2 (AGU/C) [Gene - OMIM - HGNC]
MT-TY:mitochondrially encoded tRNA tyrosine [Gene - OMIM - HGNC]
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.8993T>G

Other names:

MTATP6, 8993T-G, LEU156ARG; L156R

HGVS:

NC_012920.1:m.8993T>G
NC_012920.1:g.8993T>G
m.8993T>G
p.Leu156Arg

Protein change:

LEU156ARG

Links:

Genetic Testing Registry (GTR): GTR000556568; Genetic Testing Registry (GTR): GTR000556575; OMIM: 516060.0001; dbSNP: rs199476133

NCBI 1000 Genomes Browser:

rs199476133

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280809	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 15, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000885721	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (May 24, 2018)	germline	clinical testing	Citation Link,
SCV005199232	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000280809

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 15, 2014)

germline

clinical testing

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

SCV000885721

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(May 24, 2018)

germline

clinical testing

Citation Link,

SCV005199232

Clinical Genetics Laboratory, Skane University Hospital Lund

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 27, 2022)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280809.1

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

#	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	0.001121	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885721.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The m.8993T>G affects the MT-ATP6 gene, and this well-studied variant accounts of the majority of patients diagnosed with Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa; see GeneReviews: NBK1173).

#	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 Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199232.1

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

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

Last Updated: Nov 24, 2024

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