Submissions for variant NM_001999.4(FBN2):c.829G>A (p.Val277Ile)

gnomAD frequency: 0.00210  dbSNP: rs146849637

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000514077	SCV000250141	likely benign	not provided	2022-11-10	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Invitae	RCV000204651	SCV000261991	likely benign	Congenital contractural arachnodactyly	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891767	SCV000308658	benign	FBN2-related condition	2020-08-04	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV002310778	SCV000317371	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-11	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.
Illumina Laboratory Services, Illumina	RCV000204651	SCV000452646	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.
Genetic Services Laboratory, University of Chicago	RCV000195579	SCV000594756	likely benign	not specified	2016-04-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514077	SCV000603679	benign	not provided	2023-05-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514077	SCV000610895	likely benign	not provided	2017-06-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000204651	SCV001136970	likely benign	Congenital contractural arachnodactyly	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514077	SCV002545349	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	FBN2: BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277516	SCV002565980	likely benign	Ehlers-Danlos syndrome	2022-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000195579	SCV004029406	likely benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000583514	SCV000692231	uncertain significance	Loeys-Dietz syndrome	2017-03-30	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000195579	SCV001799790	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000514077	SCV001808591	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514077	SCV001926917	likely benign	not provided		no assertion criteria provided	clinical testing