ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.474_477del (p.Glu159fs)

dbSNP: rs774755297
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042995 SCV001206705 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu159Leufs*2) in the RARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RARS2 are known to be pathogenic (PMID: 17847012, 22569581, 26083569). This variant is present in population databases (rs774755297, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 840886). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784586 SCV002019646 pathogenic Pontocerebellar hypoplasia type 6 2020-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001784586 SCV004206148 likely pathogenic Pontocerebellar hypoplasia type 6 2023-09-26 criteria provided, single submitter clinical testing

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.