ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)

gnomAD frequency: 0.00001  dbSNP: rs199668238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317363 SCV001508022 uncertain significance Congenital contractural arachnodactyly 2020-09-02 criteria provided, single submitter clinical testing 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. 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. 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). This sequence change replaces valine with phenylalanine at codon 1468 of the FBN2 protein (p.Val1468Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine.

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