ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)

gnomAD frequency: 0.00002  dbSNP: rs2229324
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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 RCV000690536 SCV000818223 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525907 SCV001736113 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-03-16 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1048 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 4/251488 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.
Revvity Omics, Revvity RCV003144507 SCV003834005 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999548 SCV004814830 uncertain significance Marfan syndrome 2023-10-30 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1048 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 4/251488 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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