ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)

gnomAD frequency: 0.00001  dbSNP: rs763094104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633590 SCV000754836 uncertain significance Congenital contractural arachnodactyly 2018-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 906 of the FBN2 protein (p.Arg906Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs763094104, ExAC 0.003%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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