Submissions for variant NM_000138.5(FBN1):c.7699+5G>A

dbSNP: rs1555394187

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507664	SCV000603614	uncertain significance	not specified	2016-08-30	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003144298	SCV003833979	uncertain significance	not provided	2019-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV003766879	SCV004578559	uncertain significance	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-05-10	criteria provided, single submitter	clinical testing	Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 439700). This variant has been observed in individual(s) with clinical features of FBN1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 62 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	RCV000663969	SCV004809163	likely pathogenic	Marfan syndrome	2024-03-27	criteria provided, single submitter	clinical testing
Center for Medical Genetics Ghent, University of Ghent	RCV000663969	SCV000787349	uncertain significance	Marfan syndrome	2017-11-07	no assertion criteria provided	clinical testing