ClinVar Miner

Submissions for variant NM_000132.3(F8):c.2945del (p.Asn982fs) (rs387906447)

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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 RCV000756119 SCV000883838 pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing The F8 c.2945delA; p.Asn982fs variant, also known as p.Asn963fs, is reported in the literature in at least one individual affected with severe hemophilia A (Riccardi 2010). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it 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: Riccardi F et al. Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. Haemophilia. 2010 Sep 1;16(5):791-800.

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