ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)

dbSNP: rs972404343
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489689 SCV000577752 likely pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect on protein function in a yeast model (PMID: 33977142); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34055681, 33977142, 30352563, 35803560)
Bruce Lefroy Centre, Murdoch Childrens Research Institute RCV001662476 SCV001879328 likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000489689 SCV002496958 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001662476 SCV003834260 uncertain significance Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2020-11-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000489689 SCV005413961 pathogenic not provided 2024-07-23 criteria provided, single submitter clinical testing PP1_strong, PP3, PM2, PM3_strong, PS3_supporting

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.