ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)

gnomAD frequency: 0.00007  dbSNP: rs150735582
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197430 SCV000250170 uncertain significance not provided 2024-07-28 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 has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); This variant is associated with the following publications: (PMID: 19006240, 18767143)
Labcorp Genetics (formerly Invitae), Labcorp RCV000206321 SCV000262021 benign Congenital contractural arachnodactyly 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310785 SCV000319331 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-15 criteria provided, single submitter clinical testing The p.R827Q variant (also known as c.2480G>A), located in coding exon 19 of the FBN2 gene, results from a G to A substitution at nucleotide position 2480. The arginine at codon 827 is replaced by glutamine, an amino acid with highly similar properties. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237691 SCV005883248 likely benign not specified 2024-12-27 criteria provided, single submitter clinical testing

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.