Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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. |