ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7201A>C (p.Ser2401Arg)

dbSNP: rs777558947
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313348 SCV000739043 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-11-28 criteria provided, single submitter clinical testing The p.S2401R variant (also known as c.7201A>C), located in coding exon 57 of the FBN2 gene, results from an A to C substitution at nucleotide position 7201. The serine at codon 2401 is replaced by arginine, an amino acid with dissimilar 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.

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.