Submissions for variant NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)

gnomAD frequency: 0.00019  dbSNP: rs2229326

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000181408	SCV000233710	benign	not specified	2014-09-18	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.
PreventionGenetics, part of Exact Sciences	RCV000181408	SCV000302579	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082398	SCV000627972	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-31	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680521	SCV000807913	likely benign	Marfan syndrome	2018-06-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756136	SCV000883857	likely benign	not provided	2017-07-30	criteria provided, single submitter	clinical testing	The c.6705A>C; p.Gly2235Gly variant (rs2229326) does not alter the amino acid sequence of the FBN1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with aortopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.02% (identified on 45 out of 276,754 chromosomes).. Based on the available information, the c.6705A>C variant is likely to be benign.
Color Diagnostics, LLC DBA Color Health	RCV000771859	SCV000904579	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771859	SCV002042011	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-04-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000771859	SCV002665950	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-09-08	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.
All of Us Research Program, National Institutes of Health	RCV000680521	SCV004822434	likely benign	Marfan syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000181408	SCV001807656	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756136	SCV001932547	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000756136	SCV001966683	likely benign	not provided		no assertion criteria provided	clinical testing