ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)

dbSNP: rs1283833434
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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 RCV000707629 SCV000836731 uncertain significance Congenital contractural arachnodactyly 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 554 of the FBN2 protein (p.Gly554Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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