NM_018122.5(DARS2):c.1191+1G>C AND Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000778951.4
Allele description [Variation Report for NM_018122.5(DARS2):c.1191+1G>C]
NM_018122.5(DARS2):c.1191+1G>C
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
Assertion and evidence details
Last Updated: Jun 10, 2023