ClinVar Miner

Submissions for variant NM_000132.3(F8):c.4379del (p.Asn1460fs) (rs387906455)

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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 RCV000757243 SCV000885393 pathogenic not provided 2017-08-22 criteria provided, single submitter clinical testing The F8 c.4379delA, p.Asn1460fs variant (rs387906455) has been reported in multiple patients with severe hemophilia A (Naylor 1993, Tuddenham 1991, Wang 2010, Factor VIII variant database). It is listed as pathogenic in ClinVar (Variation ID: 10261), and observed 3 times in the Genome Aggregation Database general population database (3/196720 alleles). The variant introduces a frameshift, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Factor VIII variant database: http://www.factorviii-db.org/ Naylor J et al. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet. 1993; 2(11):1773-8. Tuddenham EG et al. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res. 1991; 19(18):4821-33. Wang X et al. The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. Haemophilia. 2010; 16(4):632-9.
OMIM RCV000010974 SCV000031201 pathogenic Hereditary factor VIII deficiency disease 1993-11-01 no assertion criteria provided literature only

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