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m.6328C>T AND Cytochrome c oxidase I deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2006
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:
RCV000010309.5

Allele description [Variation Report for m.6328C>T]

m.6328C>T

Gene:
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.6328C>T
Other names:
S142F
HGVS:
NC_012920.1:m.6328C>T
Protein change:
SER142PHE
Links:
OMIM: 516030.0009; dbSNP: rs267606883
NCBI 1000 Genomes Browser:
rs267606883

Condition(s)

Name:
Cytochrome c oxidase I deficiency
Identifiers:
MedGen: C4016602

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030534OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Lucioli S, Hoffmeier K, Carrozzo R, Tessa A, Ludwig B, Santorelli FM.

Neurogenetics. 2006 Mar;7(1):51-7. Epub 2005 Nov 12.

PubMed [citation]
PMID:
16284789

Details of each submission

From OMIM, SCV000030534.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In skeletal muscle tissue from a woman with COX deficiency (220110), Lucioli et al. (2006) identified a homoplasmic 6328C-T transition in the MTCO1 gene, resulting in a ser142-to-phe (S142F) substitution in the beginning of the fourth N-terminal transmembrane helix. Expression of the homologous mutation in the bacterium Paracoccus denitrificans resulted in a significant decrease in COX enzyme activity.

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

Last Updated: Jan 7, 2023