ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)

dbSNP: rs1230736233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795356 SCV000934814 uncertain significance Congenital contractural arachnodactyly 2023-02-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 577 of the FBN2 protein (p.Asp577Asn). This variant is present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 641982). 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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