ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)

dbSNP: rs2112811070
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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 RCV001363529 SCV001559645 uncertain significance Congenital contractural arachnodactyly 2020-01-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 25 of the FBN2 protein (p.Gly25Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FBN2-related conditions. This variant is not present in population databases (ExAC no frequency).

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