Submissions for variant NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)

gnomAD frequency: 0.69111  dbSNP: rs190450

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117030	SCV000151152	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000117030	SCV000168515	benign	not specified	2012-11-02	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117030	SCV000269106	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Ser2400Ser in exon 57 of FBN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 36.8% (1621/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs190450).
PreventionGenetics, part of Exact Sciences	RCV000117030	SCV000308646	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310668	SCV000317686	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-11-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000269057	SCV000452552	benign	Congenital contractural arachnodactyly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000269057	SCV000745425	benign	Congenital contractural arachnodactyly	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000269057	SCV001728666	benign	Congenital contractural arachnodactyly	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269057	SCV001933382	benign	Congenital contractural arachnodactyly	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701504	SCV001933383	benign	Macular degeneration, early-onset	2021-08-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811415	SCV002049934	benign	not provided	2024-11-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117030	SCV003929265	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000269057	SCV000734374	benign	Congenital contractural arachnodactyly		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000269057	SCV000745925	benign	Congenital contractural arachnodactyly	2014-11-19	no assertion criteria provided	clinical testing