ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)

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
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760245 SCV000890079 pathogenic Coffin-Lowry syndrome; Mental retardation, X-linked 19 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000760245 SCV000936246 pathogenic Coffin-Lowry syndrome; Mental retardation, X-linked 19 2018-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg305*) in the RPS6KA3 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 been observed in individuals with Coffin–Lowry syndrome (PMID: 11180593, 15668050). ClinVar contains an entry for this variant (Variation ID: 225519). Loss-of-function variants in RPS6KA3 are known to be pathogenic (PMID: 11180593, 15668050). For these reasons, this variant has been classified as Pathogenic.
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM RCV000210889 SCV000267157 pathogenic Coffin-Lowry syndrome 2015-11-17 no assertion criteria provided clinical testing Premature stop codon formation

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.