ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)

gnomAD frequency: 0.00004  dbSNP: rs140812463
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 RCV000196344 SCV000250210 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing Reported in one individual with suspected heritable thoracic aortic disorder (PMID: 29907982); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); This variant is associated with the following publications: (PMID: 19006240, 18767143, 29907982)
Invitae RCV000466570 SCV000553203 benign Congenital contractural arachnodactyly 2023-10-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002171 SCV001160031 uncertain significance not specified 2018-11-07 criteria provided, single submitter clinical testing The FBN2 c.4418G>A; p.Arg1473His variant (rs140812463) to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213327). This variant is found on five chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 1473 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg1473His variant is uncertain at this time.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277527 SCV002565926 uncertain significance Ehlers-Danlos syndrome 2020-08-07 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.