ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.1191+1G>C

dbSNP: rs754063468
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778951 SCV000915375 uncertain significance Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2018-08-20 criteria provided, single submitter clinical testing The DARS2 c.1191+1G>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite occurring in a region of good sequencing coverage, suggesting it is rare. Due to the potential impact of splice donor variants and the lack of clarifying evidence, the c.1191+1G>C variant is classified as a variant of unknown significance but suspicious for pathogenicity for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.