Submissions for variant NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)

gnomAD frequency: 0.00013  dbSNP: rs374922166

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726832	SCV000250142	likely benign	not provided	2020-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310779	SCV000318117	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-03	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083543	SCV000630258	benign	Congenital contractural arachnodactyly	2024-01-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726832	SCV000703466	uncertain significance	not provided	2016-12-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083543	SCV001316686	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277517	SCV002565968	likely benign	Ehlers-Danlos syndrome	2022-05-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937723	SCV004760956	benign	FBN2-related disorder	2019-11-16	no assertion criteria provided	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).