ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1290A>G (p.Pro430=)

gnomAD frequency: 0.00004  dbSNP: rs749526018
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
GeneDx RCV000440066 SCV000528247 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001184551 SCV001350560 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059667 SCV002399350 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000454 SCV004823060 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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.