ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)

gnomAD frequency: 0.00001  dbSNP: rs778868393
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733468 SCV000861542 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003336164 SCV004046348 likely pathogenic VARS2-related disorder criteria provided, single submitter clinical testing This nonsense variant found in exon 15 of 30 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.002% (4/218236), and thus is presumed to be rare. Based on the available evidence, the c.1558C>T (p.Arg520Ter) variant is 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.