ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)

dbSNP: rs1555924331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660251 SCV000782269 pathogenic Coffin-Lowry syndrome 2016-11-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000660251 SCV000845524 likely pathogenic Coffin-Lowry syndrome 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714792 SCV000845525 likely pathogenic Intellectual disability, X-linked 19 2018-08-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140055 SCV003827237 pathogenic not provided 2022-02-04 criteria provided, single submitter clinical testing
Duke University Health System Sequencing Clinic, Duke University Health System RCV000660251 SCV003918935 likely pathogenic Coffin-Lowry syndrome 2023-04-20 criteria provided, single submitter research
GeneDx RCV003140055 SCV003935445 likely pathogenic not provided 2023-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23022073, 33101045, 16879200)

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.