ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)

gnomAD frequency: 0.00001  dbSNP: rs888064842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698835 SCV000827524 benign Congenital contractural arachnodactyly 2023-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369908 SCV002685665 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-24 criteria provided, single submitter clinical testing The p.N2890D variant (also known as c.8668A>G), located in coding exon 65 of the FBN2 gene, results from an A to G substitution at nucleotide position 8668. The asparagine at codon 2890 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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