ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)

dbSNP: rs1411617809
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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 RCV001284775 SCV001470795 likely pathogenic Hereditary factor VIII deficiency disease 2019-11-21 criteria provided, single submitter clinical testing The F8 c.5875A>T; p.Ile1959Phe variant is reported in the literature in at least one individual affected with moderate hemophilia A (Johnsen 2017, see link to F8 database). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 1959 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. References: Link to F8 database: http://f8-db.eahad.org/index.php 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.

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