ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.1541del (p.Pro514fs)

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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 RCV005023689 SCV005658128 pathogenic Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735978 SCV005362034 pathogenic FGA-related disorder 2024-07-22 no assertion criteria provided clinical testing The FGA c.1541delC variant is predicted to result in a frameshift and premature protein termination (p.Pro514Leufs*24). This variant, previously described as fibrinogen Perth, has been reported to be causative for congenital fibrinogen deficiency (Homer et al. 2003. PubMed ID: 12871326; Westbury et al. 2013. PubMed ID: 24048413). This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in FGA are expected to be pathogenic. This variant is interpreted as pathogenic.

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