Submissions for variant NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)

gnomAD frequency: 0.00327  dbSNP: rs78727187

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195111	SCV000247363	uncertain significance	not specified	2014-05-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000195111	SCV000250109	benign	not specified	2016-06-22	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	RCV000195111	SCV000308614	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310752	SCV000317670	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-05	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.
Illumina Laboratory Services, Illumina	RCV000331925	SCV000452596	benign	Congenital contractural arachnodactyly	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000331925	SCV000563019	benign	Congenital contractural arachnodactyly	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000195111	SCV000708601	likely benign	not specified	2017-05-22	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659617	SCV000781456	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573307	SCV001472439	likely benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277454	SCV002565919	benign	Ehlers-Danlos syndrome	2022-04-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000659617	SCV002566577	benign	Connective tissue disorder	2020-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573307	SCV003916977	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FBN2: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000195111	SCV004029363	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573307	SCV001798977	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000195111	SCV001809296	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573307	SCV001931429	likely benign	not provided		no assertion criteria provided	clinical testing