ClinVar Miner

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

dbSNP: rs1553965519
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600509 SCV000711752 pathogenic Congenital afibrinogenemia 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.

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