ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) (rs937519016)

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
Counsyl RCV000670118 SCV000794934 uncertain significance Propionic acidemia 2017-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001565479 SCV001788833 likely pathogenic not provided 2019-08-16 no assertion criteria provided clinical testing Reported in an individual reported to have propionic acidemia who also had a second variant identified in the PCCA gene; although, no information was provided about how the diagnosis of propionic acidemia was established (Perez et al., 2003); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 12559849, 15464417)

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.