ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261947 SCV001439298 likely pathogenic Mental retardation, autosomal dominant 35 2020-06-10 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001261947 SCV001445890 pathogenic Mental retardation, autosomal dominant 35 2019-07-09 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.632A>C (p.Gln211Pro) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. It localizes to the B56δ regulatory subunit in the PPP2R5D protein in close proximity to other previously reported Pathogenic variants (PMID: 26168268). Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.632A>C (p.Gln211Pro) variant is classified as Pathogenic.
Baylor Genetics RCV001261947 SCV001521017 likely pathogenic Mental retardation, autosomal dominant 35 2019-02-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect - Simons Searchlight RCV001261947 SCV001443621 pathogenic Mental retardation, autosomal dominant 35 2018-08-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.

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.