ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)

dbSNP: rs1419124277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313345 SCV000739040 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-26 criteria provided, single submitter clinical testing The p.E2300K variant (also known as c.6898G>A), located in coding exon 55 of the FBN2 gene, results from a G to A substitution at nucleotide position 6898. The glutamic acid at codon 2300 is replaced by lysine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001303280 SCV001492520 uncertain significance Congenital contractural arachnodactyly 2020-08-14 criteria provided, single submitter clinical testing 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 not expected to disrupt FBN2 protein function. This variant has not been reported in the literature in individuals with FBN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 519864). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 2300 of the FBN2 protein (p.Glu2300Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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.

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