ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)

gnomAD frequency: 0.00009  dbSNP: rs371377334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631904 SCV000753007 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188154 SCV001355130 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-07 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 1448 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 10/282556 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.
Fulgent Genetics, Fulgent Genetics RCV002507063 SCV002815223 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-10-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003813 SCV004814737 uncertain significance Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 1448 of the FBN1 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 10/282556 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.

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