ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) (rs1554123064)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620817 SCV000739034 likely pathogenic Cardiovascular phenotype 2017-06-15 criteria provided, single submitter clinical testing The p.C1162W variant (also known as c.3486T>G), located in coding exon 27 of the FBN2 gene, results from a T to G substitution at nucleotide position 3486. The cysteine at codon 1162 is replaced by tryptophan, an amino acid with highly dissimilar properties. Based on internal structural assessment, this alteration eliminates a structurally critical disulfide bond in cbEGF domain #13. In one study, 13 of 14 reported FBN2 mutations were found in the central region of the gene (exons 24-36), and 7 of these mutations were noted to alter or produce a cysteine residue (Callewaert BL et al. Hum Mutat. 2009;30(3):334-341). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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