ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) (rs1553965519)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000600509 SCV000711752 pathogenic Afibrinogenemia, congenital 2016-04-27 criteria provided, single submitter clinical testing The p.Trp341X variant in FGG has not been previously reported in individuals wit h afibrinogenemia/hypofibrinogenemia and is absent from large population studies . This nonsense variant leads to a premature termination codon at position 341 w hich is predicted to lead to a truncated or absent protein. Loss of function var iants in FGG have been shown to cause afibrinogenemia in the homozygous state an d hypofibrinogenemia (though not always symptomatic) in the heterozygous state. In summary, this variant meets our criteria to be classified as pathogenic for a fibrinogenemia in an autosomal recessive manner.

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.