ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) (rs995323393)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633609 SCV000754855 uncertain significance Congenital contractural arachnodactyly 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2003 of the FBN2 protein (p.Glu2003Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBN2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264672 SCV001442871 likely benign Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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