ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)

gnomAD frequency: 0.00113  dbSNP: rs143055643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035282 SCV000058930 likely benign not specified 2012-03-13 criteria provided, single submitter clinical testing Asn2650Asn in exon 63 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.24% (9/3738) Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs143055643).
Eurofins Ntd Llc (ga) RCV000035282 SCV000231912 likely benign not specified 2015-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000035282 SCV000233713 benign not specified 2014-06-23 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.
Invitae RCV000525759 SCV000627995 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001180034 SCV000738813 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001180034 SCV001344881 benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-10 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.