Submissions for variant NM_000138.5(FBN1):c.5423-5C>T

gnomAD frequency: 0.00002  dbSNP: rs368750818

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001847386	SCV002104314	likely benign	not provided	2021-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002074406	SCV002335945	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-10-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001847386	SCV003917381	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	FBN1: BP4
Color Diagnostics, LLC DBA Color Health	RCV003528340	SCV004357359	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-11-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004009170	SCV004830896	likely benign	Marfan syndrome	2023-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003528340	SCV005113193	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-06-11	criteria provided, single submitter	clinical testing	The c.5423-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 44 in the FBN1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.