ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270843 SCV001451613 uncertain significance Congenital contractural arachnodactyly 2019-05-03 criteria provided, single submitter clinical testing The FBN2 c.4863C>G (p.Cys1621Trp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. This variant impacts a cysteine residue in one of several transforming growth factor (TGF)-β binding protein domains, which are characterized by eight cysteine residues that form four stabilizing disulfide bonds. Disruption of these bonds may impact protein structure (Piha-Gossack et al. 2012). Based on the limited evidence, the p.Cys1621Trp variant is classified as a variant of uncertain significance for congenital contractural arachnodactyly.

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