ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)

dbSNP: rs1555400052
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989333 SCV001139620 likely pathogenic Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053366 SCV001217624 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly560 amino acid residue in FBN1. Other variant(s) that disrupt this residue have been observed in individuals with FBN1-related conditions (PMID: 11700157, 25101912), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to be de novo in an individual affected with Marfan syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 560 of the FBN1 protein (p.Gly560Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000989333 SCV005200831 likely pathogenic Marfan syndrome 2024-05-28 criteria provided, single submitter clinical testing PM1_Supporting, PM2, PM5_Supporting, PP2, PP3

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.