Submissions for variant NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)

gnomAD frequency: 0.00006  dbSNP: rs138046782

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000823481	SCV000964342	benign	Congenital contractural arachnodactyly	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003307563	SCV003989492	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-06-13	criteria provided, single submitter	clinical testing	The p.V471I variant (also known as c.1411G>A), located in coding exon 10 of the FBN2 gene, results from a G to A substitution at nucleotide position 1411. The valine at codon 471 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV004693400	SCV005188582	uncertain significance	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV004693400	SCV005434955	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	FBN2: BP4