Submissions for variant NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)

gnomAD frequency: 0.00001  dbSNP: rs779202876

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000195602	SCV000250221	uncertain significance	not provided	2023-08-04	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae	RCV000233352	SCV000287267	likely benign	Congenital contractural arachnodactyly	2023-12-09	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000233352	SCV000781464	uncertain significance	Congenital contractural arachnodactyly	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345705	SCV002647208	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2022-05-23	criteria provided, single submitter	clinical testing	The p.V1768A variant (also known as c.5303T>C), located in coding exon 41 of the FBN2 gene, results from a T to C substitution at nucleotide position 5303. The valine at codon 1768 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.
CeGaT Center for Human Genetics Tuebingen	RCV000195602	SCV004159322	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	FBN2: BS1