ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.117del (p.Val40fs)

dbSNP: rs762964798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852003 SCV000899445 likely pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Institute of Human Genetics, University Hospital Muenster RCV002067219 SCV002496147 pathogenic Familial dysfibrinogenemia 2022-01-20 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP5
Fulgent Genetics, Fulgent Genetics RCV005029421 SCV005662398 pathogenic Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735797 SCV005362251 pathogenic FGA-related disorder 2024-08-14 no assertion criteria provided clinical testing The FGA c.117delT variant is predicted to result in a frameshift and premature protein termination (p.Val40Trpfs*31). This variant has been reported, along with the common FGA 11kb del and in the homozygous state, in individuals with congenital afibrinogenemia (Reported as g.1185delT, Neerman-Arbez et al. 2001. PubMed ID: 11354637; Hadjali-Saichi et al. 2022. PubMed ID: 35488806). It was also reported to partially contribute to the phenotype in another individual with thrombotic disease (Supplementary Table 3, Downes et al. 2019. PubMed ID: 31064749). This variant is reported in 0.0062% 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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