Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000325344 | SCV000431949 | uncertain significance | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2017-04-28 | criteria provided, single submitter | clinical testing | The DGUOK c.142+1G>T variant occurs in a donor splice site and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change and no publications were found based on this search. The c.142+1G>T variant was not found in 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Due to the potential impact of splice donor variants and lack of clarifying evidence, the c.142+1G>T variant is classified as a variant of unknown significance but suspicious for pathogenicity for mitochondrial DNA depletion syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |