ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)

gnomAD frequency: 0.00001  dbSNP: rs370923981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035187 SCV000058829 uncertain significance not specified 2012-01-30 criteria provided, single submitter clinical testing The Asn1369Ser variant has not been reported in the literature nor previously id entified by our laboratory. Computational analyses (biochemical amino acid prop erties, conservation, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In the absence of additional information, the cli nical significance of this variant cannot be determined at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001343735 SCV001537741 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-07-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528139 SCV004357392 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-07 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1369 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 1/251348 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 RCV003996188 SCV004828151 uncertain significance Marfan syndrome 2023-10-23 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1369 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 1/251348 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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