ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) (rs144822241)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154718 SCV000168455 benign not specified 2014-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000154718 SCV000594754 likely benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000553537 SCV000627959 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-01-16 criteria provided, single submitter clinical testing This sequence change affects codon 2096 of the FBN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN1 protein. This variant is present in population databases (rs144822241, ExAC 0.01%) but has not been reported in the literature in individuals with a FBN1-related disease. ClinVar contains an entry for this variant (Variation ID: 137310). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154718 SCV000204398 likely benign not specified 2013-04-02 criteria provided, single submitter clinical testing Cys2096Cys in Exon 50 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter the amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.02% (1/4396) of African American chromosomes from a large population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs144822241).

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