ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6280C>T (p.Arg2094Trp)

dbSNP: rs1262453464
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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 RCV002313335 SCV000739027 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-04-28 criteria provided, single submitter clinical testing The p.R2094W variant (also known as c.6280C>T), located in coding exon 49 of the FBN2 gene, results from a C to T substitution at nucleotide position 6280. The arginine at codon 2094 is replaced by tryptophan, an amino acid with dissimilar properties, and is located in the TGFBP #06 domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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