ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)

gnomAD frequency: 0.00001  dbSNP: rs770269667
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
Invitae RCV000814783 SCV000955209 uncertain significance Congenital contractural arachnodactyly 2018-10-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with FBN2-related disease. This variant is present in population databases (rs770269667, ExAC 0.002%). This sequence change replaces glycine with valine at codon 1584 of the FBN2 protein (p.Gly1584Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
Mayo Clinic Laboratories, Mayo Clinic RCV001509251 SCV001715862 uncertain significance not provided 2020-07-02 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.