ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)

gnomAD frequency: 0.00009  dbSNP: rs201113098
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 RCV000198829 SCV000250220 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009).; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000463573 SCV000553171 likely benign Congenital contractural arachnodactyly 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315585 SCV000738947 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-22 criteria provided, single submitter clinical testing The p.K1759Q variant (also known as c.5275A>C), located in coding exon 41 of the FBN2 gene, results from an A to C substitution at nucleotide position 5275. The lysine at codon 1759 is replaced by glutamine, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987442 SCV004804259 likely benign not specified 2024-01-08 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.