ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala)

gnomAD frequency: 0.00001  dbSNP: rs886039005
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310946 SCV000319599 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-18 criteria provided, single submitter clinical testing The p.V2522A variant (also known as c.7565T>C), located in coding exon 59 of the FBN2 gene, results from a T to C substitution at nucleotide position 7565. The valine at codon 2522 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.
GeneDx RCV001795474 SCV002032413 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frederic et al., 2009).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 263995; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533, 18767143)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.