ClinVar Miner

Submissions for variant NM_002480.3(PPP1R12A):c.2459G>A (p.Arg820Lys)

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 RCV002966686 SCV003284314 likely benign not provided 2024-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002966687 SCV003682387 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.2459G>A (p.R820K) alteration is located in exon 17 (coding exon 17) of the PPP1R12A gene. This alteration results from a G to A substitution at nucleotide position 2459, causing the arginine (R) at amino acid position 820 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002966686 SCV004026240 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing PM2_SUP

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.