NM_024996.5(GFM1):c.139C>T (p.Arg47Ter) AND Combined oxidative phosphorylation deficiency 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004378.4

Allele description [Variation Report for NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)]

NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)

Gene:
GFM1:G elongation factor mitochondrial 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.32
Genomic location:
Preferred name:
NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)
HGVS:
  • NC_000003.12:g.158645686C>T
  • NG_008441.1:g.6159C>T
  • NM_024996.5:c.139C>T
  • NP_079272.4:p.Arg47Ter
  • NC_000003.11:g.158363475C>T
Protein change:
R47*; ARG47TER
Links:
OMIM: 606639.0002; dbSNP: rs119470019
NCBI 1000 Genomes Browser:
rs119470019
Molecular consequence:
  • NM_024996.5:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Combined oxidative phosphorylation deficiency 1 (COXPD1)
Synonyms:
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
Identifiers:
MedGen: C1836797; OMIM: 609060

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024550OMIMno assertion criteria providedPathogenic
(Jan 1, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M.

Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.

PubMed [citation]
PMID:
17160893
PMCID:
PMC1785320

Details of each submission

From OMIM, SCV000024550.3

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

Description

In a child of nonconsanguineous healthy parents with infantile encephalopathy (609060), Valente et al. (2007) identified compound heterozygosity for 2 mutations in the EFG1 gene: 139C-T, resulting in an arg47 to ter (R47X) substitution, inherited from the heterozygous father, and 1478T-G, resulting in a met496-to-arg (M496R; 606639.0003), inherited from the heterozygous mother. The clinical course was dominated by severe neonatal lactic acidosis and rapidly evolving neurologic failure, with the neuroradiologic hallmarks of early-onset Leigh syndrome, namely, bilateral necrotizing lesions in the basal ganglia, diencephalon, and brain stem. The patient never had laboratory or clinical signs of hepatic involvement.

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

Last Updated: Mar 30, 2019

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