ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)

dbSNP: rs1057519321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000416376 SCV000494030 likely pathogenic Marfan syndrome; Congenital contractural arachnodactyly 2016-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001861464 SCV002194114 uncertain significance Congenital contractural arachnodactyly 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 982 of the FBN2 protein (p.Cys982Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. 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 expected to disrupt FBN2 protein function. ClinVar contains an entry for this variant (Variation ID: 375300). This missense change has been observed in individual(s) with clinical features of FBN2-related disease (PMID: 29501612). This variant is not present in population databases (ExAC no frequency).

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