ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)

gnomAD frequency: 0.00002  dbSNP: rs775848753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865296 SCV001006236 likely benign Congenital contractural arachnodactyly 2023-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169116 SCV003913585 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-25 criteria provided, single submitter clinical testing The p.F2554V variant (also known as c.7660T>G), located in coding exon 60 of the FBN2 gene, results from a T to G substitution at nucleotide position 7660. The phenylalanine at codon 2554 is replaced by valine, an amino acid with highly similar properties. 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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