Submissions for variant NM_000138.5(FBN1):c.1571del (p.Thr524fs)

dbSNP: rs886038817

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000251739	SCV000318121	pathogenic	Cardiovascular phenotype	2012-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002518679	SCV003442975	pathogenic	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-10-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Thr524Serfs*55) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 263469). For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent	RCV000663469	SCV000786765	likely pathogenic	Marfan syndrome	2017-11-07	no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV000663469	SCV000986795	not provided	Marfan syndrome		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 04/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.