NC_012920.1(MT-ATP6):m.9185T>C AND Charcot-Marie-Tooth disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2016
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:: RCV000240612.1

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:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

Recent activity

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MAG: Pelagibacteraceae bacterium isolate EAC659, whole genome shotgun sequencing...
MAG: Pelagibacteraceae bacterium isolate EAC659, whole genome shotgun sequencing project
gi|1269283156|gb|NZPH00000000.1|NZP 0000

Nucleotide
EF-hand calcium-binding domain-containing protein 4A isoform X16 [Homo sapiens]
EF-hand calcium-binding domain-containing protein 4A isoform X16 [Homo sapiens]
gi|2462524689|ref|XP_054224502.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299229	GeneReviews	no assertion criteria provided	Pathogenic (Sep 1, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299229

GeneReviews

no assertion criteria provided

Pathogenic
(Sep 1, 2016)

germline

literature only

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

Citation Link

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	literature only

Citations

PubMed

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, et al.

Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29.

PubMed [citation]

PMID:: 22933740
PMCID:: PMC3525307

Details of each submission

From GeneReviews, SCV000299229.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Oct 26, 2024

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