ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1636C>T (p.Arg546Trp) (rs137852416)

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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 RCV000756106 SCV000883824 pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing The F8 c.1636C>T;p.Arg546Trp variant (also known as Arg527Trp) has been published in the medical literature and gene-specific databases in individuals with mild hemophilia A (see link, Bogdanova 2007, Schwaab 1995). The variant is listed in the ClinVar database (Variation ID: 10222) and the dbSNP variant database (rs137852416) with an allele frequency of 0.0095 percent in the Exome Variant Server. The amino acid at this position is well conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant is classified as pathogenic with predicted mild outcomes. References: Link to F8 database: 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. Schwaab R et al. Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol. 1995 Oct;91(2):458-64.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852048 SCV000899541 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000010935 SCV000031162 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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