ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5914_5915del (p.Ile1972fs) (rs1216878586)

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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 RCV001001337 SCV001158527 pathogenic Hereditary factor VIII deficiency disease 2019-06-01 criteria provided, single submitter clinical testing The F8 c.5914_5915delAT; p.Ile1972fs variant, also known as del2 in Ile1953, is reported in the literature in individuals affected with severe hemophilia A (Johnsen 2017, Liu 2002). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting two nucleotides, 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: Johnsen JM et al. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Adv. 2017 May 18;1(13):824-834. Liu ML et al. Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. Thromb Haemost. 2002 Feb;87(2):273-6.

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