ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)

gnomAD frequency: 0.00004  dbSNP: rs765649978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197758 SCV000250285 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19006240, 18767143)
Labcorp Genetics (formerly Invitae), Labcorp RCV000531948 SCV000630227 likely benign Congenital contractural arachnodactyly 2023-10-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000197758 SCV001715863 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363007 SCV002625450 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-04-30 criteria provided, single submitter clinical testing The p.S1269G variant (also known as c.3805A>G), located in coding exon 29 of the FBN2 gene, results from an A to G substitution at nucleotide position 3805. The serine at codon 1269 is replaced by glycine, an amino acid with similar properties, and is located in the located in cbEGF-like #16 domain. This amino acid position is well conserved in available vertebrate species; however, glycine is the reference amino acid in other vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. 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.
GenomeConnect, ClinGen RCV000531948 SCV002075072 not provided Congenital contractural arachnodactyly no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-01-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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