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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2022
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:
RCV003224857.2

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, type IA (CMT1A)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920923Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 12, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV003920923.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024