ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6506G>A (p.Arg2169His) (rs137852461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757247 SCV000885397 pathogenic not provided 2017-11-21 criteria provided, single submitter clinical testing The F8 c.6506G>A; p.Arg2169His variant, also known as Arg2150His, is published in the medical literature in individuals with mild to moderate hemophilia A (Bogdanova 2007, Diamond 1992, Green 2008, Higuchi 1991). The variant is listed in the ClinVar database (Variation ID: 10315), the dbSNP variant database (rs137852461), in the Exome Variant Server in 1/10562 alleles, and in the Genome Aggregation Database in 1/178645 alleles. The arginine at this position is conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant is classified as pathogenic. References: Bogdanova N et al. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat. 2007 Jan;28(1):54-60. Diamond C et al. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Hum Mutat. 1992;1(3):248-57. Green PM et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol. 2008 Oct;143(1):115-28. Higuchi M et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851846 SCV000899847 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000011028 SCV000031255 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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