ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)

dbSNP: rs1060501030
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000470418 SCV000544840 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2016-12-27 criteria provided, single submitter clinical testing A different variant with the same protein effect (c.7978A>C, p.Ser2660Arg) has been observed in two related individuals diagnosed with Marfan syndrome using the Ghent criteria, findings that are highly specific for Marfan syndrome (PMID: 16835936). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN1-related disease. This sequence change replaces serine with arginine at codon 2660 of the FBN1 protein (p.Ser2660Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Blueprint Genetics RCV000788115 SCV000927122 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000664003 SCV000787387 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided 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.