ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)

dbSNP: rs753312969
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
Mendelics RCV002250286 SCV002518959 pathogenic Pontocerebellar hypoplasia type 6 2022-05-04 criteria provided, single submitter clinical testing
DASA RCV002250286 SCV002588773 pathogenic Pontocerebellar hypoplasia type 6 2022-11-03 criteria provided, single submitter clinical testing The c.1390C>T;p.(Gln464*) variant creates a premature translational stop signal in the RARS2 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (Clinvar ID: 1686119) - PS4_supporting. The variant is present at low allele frequencies population databases (rs753312969 – gnomAD 0.00003990%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Invitae RCV003094037 SCV003441225 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs753312969, gnomAD no frequency). 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: 1686119). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln464*) 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).
Baylor Genetics RCV002250286 SCV004206134 likely pathogenic Pontocerebellar hypoplasia type 6 2023-10-18 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.