ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)

dbSNP: rs2068650679
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251296 SCV001426837 likely pathogenic Coffin-Lowry syndrome 2020-07-31 criteria provided, single submitter clinical testing Variant summary: RPS6KA3 c.212T>G (p.Leu71X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 183190 control chromosomes. To our knowledge, no occurrence of c.212T>G in individuals affected with Coffin-Lowry Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Genetic Services Laboratory,University of Chicago RCV001819956 SCV002069310 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing DNA sequence analysis of the RPS6KA3 gene demonstrated a sequence change in exon 3, c.212T>G, which results in the creation of a premature stop codon at amino acid position 71, p.Leu71*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated RPS6KA3 protein with potentially abnormal function. This sequence change is located in a protein domain where other truncating mutations have been previously reported in patients with Coffin-Lowry syndrome. This sequence change has not been observed in population databases (ExAc, gnomAD).

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.