ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) (rs56023452)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198285 SCV000250314 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing p.Glu2760Ala (GAA>GCA): c.8279 A>C in exon 64 of the FBN2 gene (NM_001999.3) The E2760A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E2760A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E2760A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD
Ambry Genetics RCV000619705 SCV000739002 uncertain significance Cardiovascular phenotype 2017-02-08 criteria provided, single submitter clinical testing The p.E2760A variant (also known as c.8279A>C), located in coding exon 64 of the FBN2 gene, results from an A to C substitution at nucleotide position 8279. The glutamic acid at codon 2760 is replaced by alanine, 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, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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