ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5696T>C (p.Phe1899Ser) (rs1486435006)

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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 RCV001002649 SCV001160634 likely pathogenic Hereditary factor VIII deficiency disease 2019-06-05 criteria provided, single submitter clinical testing The F8 c.5696T>C; p.Phe1899Ser variant is reported in the literature in multiple individuals affected with hemophilia A, including one with undetectable F8 activity (Johnsen 2017, Ravanbod 2012). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 1899 is highly 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: 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. Ravanbod S et al. Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. Haemophilia. 2012 May;18(3):e340-6.

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