ClinVar Miner

Submissions for variant NM_000132.3(F8):c.2149C>T (p.Arg717Trp) (rs137852435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756105 SCV000883823 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing The F8 c.2149C>T; p.Arg717Trp variant (rs137852435), also known as Arg698Trp for legacy nomenclature, is reported in multiple patients diagnosed with mild hemophilia A (Diamond 1992, Rudzki 2003, Factor VIII variant database). This variant is reported in ClinVar (Variation ID: 10245). It is found in the general population with a low overall allele frequency of 0.001% (2/176848 alleles, including 1 hemizygote) in the Genome Aggregation Database. The arginine at codon 717 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be pathogenic. REFERENCES Link to Factor VIII variant database: http://www.factorviii-db.org/advance_search_results.php 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. Rudzki Z et al. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol. 1996; 94(2):400-6.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851937 SCV000899321 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851590 SCV000899322 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
OMIM RCV000010958 SCV000031185 pathogenic Hereditary factor VIII deficiency disease 1992-01-01 no assertion criteria provided literature only

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