ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)

dbSNP: rs869025427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208361 SCV000263927 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV001338220 SCV001531872 uncertain significance Congenital contractural arachnodactyly 2020-09-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FBN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 222627). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 1054 of the FBN2 protein (p.Arg1054Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. 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 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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