ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)

gnomAD frequency: 0.00001  dbSNP: rs576501460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002151314 SCV002463810 benign Congenital contractural arachnodactyly 2024-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382858 SCV004091720 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-19 criteria provided, single submitter clinical testing The p.N2462S variant (also known as c.7385A>G), located in coding exon 58 of the FBN2 gene, results from an A to G substitution at nucleotide position 7385. The asparagine at codon 2462 is replaced by serine, 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.
Fulgent Genetics, Fulgent Genetics RCV005032180 SCV005672292 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2024-06-06 criteria provided, single submitter clinical testing

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