ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)

dbSNP: rs199560824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343389 SCV001537367 uncertain significance Congenital contractural arachnodactyly 2018-02-22 criteria provided, single submitter clinical testing 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"; Align-GVGD: "Class C0"). This sequence change replaces alanine with glutamic acid at codon 23 of the FBN2 protein (p.Ala23Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. 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. 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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