ClinVar Miner

Submissions for variant NM_005141.4(FGB):c.586C>T (p.Arg196Cys)

dbSNP: rs121909623
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851604 SCV000899355 uncertain significance Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
OMIM RCV000017817 SCV000038096 other FIBRINOGEN LONGMONT 2018-03-29 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004724748 SCV005339164 likely pathogenic FGB-related disorder 2024-08-14 no assertion criteria provided clinical testing The FGB c.586C>T variant is predicted to result in the amino acid substitution p.Arg196Cys. This variant has been reported in multiple individuals with congenital dysfibrinogenemia (Lounes et al. 2001. PubMed ID: 11468164; Chinni et al. 2018. PubMed ID: 30418131; Table S3, Downes et al. 2019. PubMed ID: 31064749; Table S3, Gindele et al. 2021. PubMed ID: 33807613; Simurda et al. 2024. PubMed ID: 38251440). In vitro studies suggest that this variant disrupts fibrinogen polymerization, leading to impaired clot formation (Lounes et al. 2001. PubMed ID: 11468164). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Taken together, this variant is interpreted as likely pathogenic.

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.