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NC_012920.1(MT-TN):m.5728T>C AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 4, 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:
RCV000010248.4

Allele description [Variation Report for NC_012920.1(MT-TN):m.5728T>C]

NC_012920.1(MT-TN):m.5728T>C

Gene:
MT-TN:mitochondrially encoded tRNA asparagine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TN):m.5728T>C
HGVS:
  • NC_012920.1:m.5728T>C
  • NC_012920.1:g.5728T>C
Nucleotide change:
5728A-G
Links:
OMIM: 590010.0003; dbSNP: rs199476132
NCBI 1000 Genomes Browser:
rs199476132

Condition(s)

Name:
Mitochondrial complex IV deficiency, nuclear type 1
Synonyms:
Mitochondrial complex IV deficiency; Complex 4 mitochondrial respiratory chain deficiency; Deficiency of mitochondrial respiratory chain complex4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0700250; MedGen: C5435656; OMIM: 220110

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030472OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2006) 		germlineliterature only

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

SCV002517717Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

Meulemans A, Seneca S, Lagae L, Lissens W, De Paepe B, Smet J, Van Coster R, De Meirleir L.

Arch Neurol. 2006 Aug;63(8):1194-8.

PubMed [citation]
PMID:
16908752

Details of each submission

From OMIM, SCV000030472.2

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

Description

In a 13-year-old boy with combined deficiency of mitochondrial complexes I (252010) and IV (220110) and a complex phenotype involving multiple organ systems, Meulemans et al. (2006) identified a 5728A-G transition in the MTTN gene. As a young child, he had failure to thrive, renal failure, and mental retardation. He later developed progressive ataxia, muscle weakness, seizures, and increased serum and CSF lactate. Brain CT scan showed basal ganglia calcifications. Mitochondrial mutation load in the patient's skeletal muscle and fibroblasts was 97% and 50%, respectively.

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

From Mendelics, SCV002517717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024