ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) (rs375241473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756114 SCV000883832 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The F8 c.1094A>G; p.Tyr365Cys variant, also known as Tyr346Cys, is published in the medical literature and in gene-specific databases in several individuals with mild hemophilia (see link to database, Bowyer 2011, Cutler 2002, Hill 2005). The variant is not listed in the ClinVar database. The variant is listed in the dbSNP variant database (rs375241473), in the Exome Variant Server in 0.0149 percent (1/6727 alleles) of the European American population, and in the Genome Aggregation Database in 0.01499 percent (12/80071 alleles, 6 hemizygotes) in the European population. The tyrosine at this position is conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant is considered pathogenic for mild hemophilia. References: Link to F8 database: Bowyer AE et al. p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it. Br J Haematol. 2011 Sep;154(5):618-25. Cutler JA et al. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mutat. 2002 Mar;19(3):274-8. Hill M et al. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia. 2005 Mar;11(2):133-41.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851582 SCV000899296 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research

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