Submissions for variant NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)

gnomAD frequency: 0.00117  dbSNP: rs34450503

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198165	SCV000250145	likely benign	not provided	2020-10-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28550590)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229529	SCV000287249	likely benign	Congenital contractural arachnodactyly	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310780	SCV000317347	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-01-15	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	RCV000229529	SCV000452636	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659598	SCV000781437	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000198165	SCV002050266	likely benign	not provided	2022-02-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277518	SCV002565882	likely benign	Ehlers-Danlos syndrome	2020-05-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330564	SCV004039316	likely benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000198165	SCV004161347	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FBN2: BS1
PreventionGenetics, part of Exact Sciences	RCV003927826	SCV004743953	benign	FBN2-related disorder	2020-03-12	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).