ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)

dbSNP: rs1751112929
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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 RCV001325039 SCV001516012 uncertain significance Congenital contractural arachnodactyly 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1111 of the FBN2 protein (p.Arg1111Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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 conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FBN2 protein function. 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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