ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) (rs753112330)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667762 SCV000792264 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734954 SCV000863135 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000667762 SCV001150302 pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000734954 SCV001231171 likely pathogenic not provided 2019-10-24 criteria provided, single submitter clinical testing This variant, c.1073_1081dup, results in the insertion of 3 amino acids to the TRMU protein (p.Gln358_Val360dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753112330, ExAC 0.01%). This variant has been observed in individuals with acute infantile liver failure (PMID:21169334, 30369941). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552491). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.