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

gnomAD frequency: 0.00113  dbSNP: rs143055643

Total submissions: 7

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.
Labcorp Genetics (formerly Invitae), Labcorp	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: seen in unaffected individuals, 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
All of Us Research Program, National Institutes of Health	RCV003996195	SCV004844935	benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing