ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)

dbSNP: rs137852358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852189 SCV000899862 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010810 SCV002047742 pathogenic Hereditary factor VIII deficiency disease 2021-05-01 criteria provided, single submitter clinical testing The F8 c.6683G>A;p.Arg2228Gln variant (rs137852358), also known as Arg2209Gln, has been described in the literature in individuals with hemophilia with inconsistent severity classifications (see link and references therein). The variant is reported in ClinVar (Variation ID: 10098) but is absent from the Genome Aggregation Database, indicating is not a common polymorphism. The arginine at codon 2228 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL:0.94). Taken together, this variant is considered pathogenic. References: Link to F8 database: http://www.factorviii-db.org/newstructure.php?aa_first=Arg&mut_id=1705&aa_last=Gln&variable=1705&hash=3361dcd5af0c49e04a7cc11718a9419c
OMIM RCV000010810 SCV000031037 pathogenic Hereditary factor VIII deficiency disease 1990-02-01 no assertion criteria provided literature only

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