ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5954del (p.Arg1985fs) (rs1215569190)

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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 RCV000756115 SCV000883834 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The F8 c.5954delG; p.Arg1985fs variant is not reported in the literature or gene-specific variant databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes one nucleotide resulting in a frameshift in exon 18 and is predicted to result in a truncated protein or mRNA that is subject to nonsense mediated decay. Two other variants (c.5953delC and c.5954_5985del32bp) that also result in a frameshift at Arg1985 codon have been identified in patients with severe hemophilia and are reported on the Factor VIII Gene database. Based on the above information, the c.5954delG variant is considered pathogenic. References: Factor VIII database: http://www.factorviii-db.org/ Ahmed A et al. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica. 2005;90(2):283-4. Hwang S et al. Profiling of factor VIII mutations in Korean hemophilia A. Haemophilia 2009; 15: 1311-1317.

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