ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)

gnomAD frequency: 0.00093  dbSNP: rs146127619
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000703006 SCV000831885 likely benign Joubert syndrome 21 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001562297 SCV001785039 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35304488)

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.