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NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe) AND Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2007
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:
RCV000001121.3

Allele description [Variation Report for NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)]

NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)

Gene:
DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.1
Genomic location:
Preferred name:
NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)
HGVS:
  • NC_000001.11:g.173857604C>T
  • NG_016138.1:g.37946C>T
  • NM_001365212.1:c.1684C>T
  • NM_018122.5:c.1837C>TMANE SELECT
  • NP_001352141.1:p.Leu562Phe
  • NP_060592.2:p.Leu613Phe
  • LRG_1270t1:c.1837C>T
  • LRG_1270:g.37946C>T
  • LRG_1270p1:p.Leu613Phe
  • NC_000001.10:g.173826742C>T
  • Q6PI48:p.Leu613Phe
Protein change:
L562F; LEU613PHE
Links:
UniProtKB: Q6PI48#VAR_037022; OMIM: 610956.0010; dbSNP: rs121918212
NCBI 1000 Genomes Browser:
rs121918212
Molecular consequence:
  • NM_001365212.1:c.1684C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018122.5:c.1837C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (LBSL)
Synonyms:
MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY; Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MILD
Identifiers:
MONDO: MONDO:0012622; MedGen: C1970180; Orphanet: 137898; OMIM: 611105

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021271OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2007) 		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

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.

PubMed [citation]
PMID:
17384640

Details of each submission

From OMIM, SCV000021271.2

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

Description

In a Belgian patient with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL; 611105), Scheper et al. (2007) found compound heterozygosity for 2 missense mutations in the DARS2 gene: L613F, brought about by a 1837C-T transition in exon 17, and L626Q (610956.0011).

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

Last Updated: Apr 23, 2022