ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)

dbSNP: rs2074026880
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210127 SCV001381597 pathogenic Diamond-Blackfan anemia 2019-09-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp33*) in the RPS19 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPS19-related conditions. A different variant (c.98G>A) giving rise to the same protein effect observed here (p.Trp33*) has been determined to be pathogenic (PMID: 18768533). This suggests that this variant is also likely to be causative of disease. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466).

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.