Submissions for variant NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)

gnomAD frequency: 0.00006  dbSNP: rs760817242

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000488222	SCV000575439	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000795229	SCV000934676	likely benign	Congenital contractural arachnodactyly	2024-01-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279252	SCV002565973	uncertain significance	Ehlers-Danlos syndrome	2019-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413344	SCV002675992	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2020-10-06	criteria provided, single submitter	clinical testing	The p.N268S variant (also known as c.803A>G), located in coding exon 6 of the FBN2 gene, results from an A to G substitution at nucleotide position 803. The asparagine at codon 268 is replaced by serine, an amino acid with highly similar properties, and is located in the cbEGF-like #01 domain. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.