ClinVar Miner

Submissions for variant NM_000132.3(F8):c.4324_4327AAGA[1] (p.Lys1443fs) (rs387906454)

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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 RCV000757251 SCV000885401 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing The F8 c.4328_4331delAAGA; p.Lys1443fs variant (rs387906454), also known as codon 1422 4bp del and codon 1423 4 bp del, is described in the medical literature in individuals with severe hemophilia (Habart 2003, Naylor 1993, Waseem 1999). The variant is described in the ClinVar database (Variation ID: 10259). The variant is not listed in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant deletes four nucleotides, causes a frameshift, and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is considered pathogenic for severe hemophilia. References: Habart D et al. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J Thromb Haemost. 2003 Apr;1(4):773-81. Naylor JA et al. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet. 1993 Jan;2(1):11-7. Waseem NH et al. Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost. 1999 Jun;81(6):900-5.
OMIM RCV000010972 SCV000031199 pathogenic Hereditary factor VIII deficiency disease 1993-11-01 no assertion criteria provided literature only

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