NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu) AND Combined oxidative phosphorylation deficiency 17

Clinical significance:Pathogenic (Last evaluated: Aug 8, 2013)

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:
RCV000056276.3

Allele description [Variation Report for NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu)]

NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu)

Gene:
ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu)
HGVS:
  • NC_000017.11:g.13014469A>G
  • NG_015808.1:g.8596T>C
  • NM_018127.6:c.460T>C
  • NP_060597.4:p.Phe154Leu
  • NC_000017.10:g.12917786A>G
  • Q9BQ52:p.Phe154Leu
Protein change:
F154L; PHE154LEU
Links:
UniProtKB: Q9BQ52#VAR_070844; OMIM: 605367.0008; dbSNP: 397515465
NCBI 1000 Genomes Browser:
rs397515465
Allele Frequency:
NaN
Molecular consequence:
  • NM_018127.6:c.460T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined oxidative phosphorylation deficiency 17 (COXPD17)
Identifiers:
MedGen: C3809526; Orphanet: 369913; OMIM: 615440
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 369913

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087448OMIMno assertion criteria providedPathogenic
(Aug 8, 2013)
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

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H.

Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11.

PubMed [citation]
PMID:
23849775
PMCID:
PMC3738821

Details of each submission

From OMIM, SCV000087448.2

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

Description

In a girl, born of consanguineous parents of Arabic descent, with combined oxidative phosphorylation deficiency-17 (COXPD17; 615440), Haack et al. (2013) identified a homozygous c.460T-C transition in exon 5 of the ELAC2 gene, resulting in a phe154-to-leu (F154L) substitution at a conserved residue in a metallo-beta-lactamase superfamily domain. The mutation was found by exome sequencing and was present at less than 0.2% frequency in 1,846 control exomes and public databases. She presented at age 2 months with poor growth, hypertrophic cardiomyopathy, and lactic acidosis, and died at age 11 months. Biochemical studies showed decreased complex I activity (60% of normal) in skeletal muscle, and there was an accumulation of unprocessed mt-tRNA intermediates in fibroblasts that could be rescued by expression of wildtype ELAC2. Family history revealed that a brother had died of unknown case at age 13 days and a sister had died of dilated hypertrophic cardiomyopathy at age 3 months.

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

Last Updated: May 8, 2017