ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.221G>T (p.Arg74Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005023674 SCV005660584 uncertain significance Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747930 SCV005348651 likely pathogenic FGB-related disorder 2024-05-23 no assertion criteria provided clinical testing The FGB c.221G>T variant is predicted to result in the amino acid substitution p.Arg74Leu. This variant has been reported in the heterozygous state in an individual with dysfibrinogenemia (Shlebak et al 2017. PubMed ID: 27812779). Alternate substitutions of this amino acid residue (p.Arg74Gly and p.Arg74Cys) have also been reported in individuals with dysfibrinogenemia (reported as Arg44Gly in Würtinger et al. 2015. PubMed ID: 26540126; reported as Arg44Cys in Koopman et al. 1992. PubMed ID: 1565641). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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