ClinVar Miner

Submissions for variant NM_000508.3(FGA):c.112A>G (p.Arg38Gly)

gnomAD frequency: 0.00001  dbSNP: rs121909608
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851993 SCV000899434 likely pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV002284177 SCV002573727 likely pathogenic not provided 2024-06-05 criteria provided, single submitter clinical testing PP1_strong, PM1_supporting, PM2_moderate, PS4_moderate
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002284177 SCV005090626 likely pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
OMIM RCV000017843 SCV000038122 other FIBRINOGEN AARHUS 1 2012-12-20 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004734521 SCV005352553 pathogenic FGA-related disorder 2024-07-11 no assertion criteria provided clinical testing The FGA c.112A>G variant is predicted to result in the amino acid substitution p.Arg38Gly. This variant, previously reported as Fibrinogen Milano XIII and as p.Arg19Gly using legacy nomenclature, has been reported to be causative for autosomal dominant dysfibrinogenemia (Bolliger-Stucki et al. 1999. PubMed ID: 10605955; Table S3, Downes et al. 2019. PubMed ID: 31064749; Asselta et al. 2015. PubMed ID: 26006300). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

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