ClinVar Miner

Submissions for variant NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)

dbSNP: rs1478088223
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
Undiagnosed Diseases Network, NIH RCV001526446 SCV001736857 uncertain significance MAST3-related disorder 2021-02-22 criteria provided, single submitter clinical testing
GeneDx RCV001655791 SCV001871228 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30842224, 34185323)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003761390 SCV004565340 pathogenic Pervasive developmental disorder 2024-02-16 criteria provided, single submitter clinical testing
OMIM RCV002310594 SCV002600211 pathogenic Developmental and epileptic encephalopathy 108 2022-11-10 no assertion criteria provided literature only

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.