ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)

gnomAD frequency: 0.00004  dbSNP: rs780957696
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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 RCV001363726 SCV001559851 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001577798 SCV001805252 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003)
Color Diagnostics, LLC DBA Color Health RCV003528292 SCV004357374 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-31 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 1602 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 6/251218 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 RCV004006782 SCV004814692 uncertain significance Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 1602 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 cardiovascular disorders in the literature. This variant has been identified in 6/251218 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.

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