ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)

dbSNP: rs104894189
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000638824 SCV000760376 pathogenic Diamond-Blackfan anemia 2017-12-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPS24 are known to be pathogenic (PMID: 17186470, 20960466). This variant has been reported in an individual affected with Diamond-Blackfan anemia (PMID: 17186470). ClinVar contains an entry for this variant (Variation ID: 7246). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg16*) in the RPS24 gene. It is expected to result in an absent or disrupted protein product.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595876 SCV005090850 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing
OMIM RCV000007668 SCV000027869 pathogenic Diamond-Blackfan anemia 3 2006-12-01 no assertion criteria provided literature only

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.