ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)

dbSNP: rs772569905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043746 SCV001207507 uncertain significance Congenital contractural arachnodactyly 2023-09-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FBN2 protein function. ClinVar contains an entry for this variant (Variation ID: 841508). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2715 of the FBN2 protein (p.Gly2715Arg).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276598 SCV002566599 uncertain significance Connective tissue disorder 2022-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416359 SCV002680326 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-01-29 criteria provided, single submitter clinical testing The p.G2715R variant (also known as c.8143G>C), located in coding exon 63 of the FBN2 gene, results from a G to C substitution at nucleotide position 8143. The glycine at codon 2715 is replaced by arginine, an amino acid with dissimilar properties, and is located in the fibulin-like domain. 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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