ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)

gnomAD frequency: 0.00001  dbSNP: rs768293070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001574931 SCV001474529 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing The FBN2 c.8675A>G; p.Asp2892Gly variant (rs768293070), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the general population with an overall allele frequency of 0.004% (9/251178 alleles) in the Genome Aggregation Database. The aspartate at codon 2892 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Asp2892Gly variant is uncertain at this time.
GeneDx RCV001574931 SCV001801823 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 18767143)
Labcorp Genetics (formerly Invitae), Labcorp RCV001871699 SCV002112568 benign Congenital contractural arachnodactyly 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447254 SCV002682564 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-04-08 criteria provided, single submitter clinical testing The p.D2892G variant (also known as c.8675A>G), located in coding exon 65 of the FBN2 gene, results from an A to G substitution at nucleotide position 8675. The aspartic acid at codon 2892 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other 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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