ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)

dbSNP: rs782763245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002494 SCV001160448 pathogenic Hereditary factor VIII deficiency disease 2019-04-25 criteria provided, single submitter clinical testing The F8 c.5301C>A; p.Tyr1767Ter variant is reported in the literature in at least one individual affected with severe hemophilia A (Bogdanova 2005). This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Bogdanova N et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat. 2005 Sep;26(3):249-54.

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