Submissions for variant NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)

gnomAD frequency: 0.00054  dbSNP: rs138574576

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035290	SCV000058938	likely benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Ile2795Ile in exon 65 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located near a splice junction, and it has been identified in 0.08% (3/3738) of African Americ an chromosomes by the NHLBI Exome sequencing project in a broad population (http ://evs.gs.washington.edu/EVS, rs138574576).
Ambry Genetics	RCV000246513	SCV000317719	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-05-20	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.
GeneDx	RCV001719722	SCV000532110	likely benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632035	SCV000753138	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-12-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000246513	SCV000902106	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000246513	SCV001349226	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-31	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996197	SCV004844894	benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541072	SCV004788830	likely benign	FBN1-related disorder	2019-02-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).