Submissions for variant NM_000138.5(FBN1):c.5225-10A>T

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002640064	SCV002983817	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2022-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003528409	SCV004357366	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-08-10	criteria provided, single submitter	clinical testing	This variant causes an A to T nucleotide substitution at the -10 position of intron 42 of the FBN1 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 1/249954 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health	RCV004007534	SCV004834339	uncertain significance	Marfan syndrome	2023-12-13	criteria provided, single submitter	clinical testing	This variant causes an A to T nucleotide substitution at the -10 position of intron 42 of the FBN1 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 1/249954 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004526205	SCV005039595	likely benign	not specified	2024-03-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545366	SCV004781735	likely benign	FBN1-related disorder	2021-03-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).