ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1504G>T (p.Val502Phe)

dbSNP: rs2073393106
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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 RCV001287809 SCV001474539 likely pathogenic Hereditary factor VIII deficiency disease 2019-09-04 criteria provided, single submitter clinical testing The F8 c.1504G>T; p.Val502Phe variant is reported in the literature in several individuals affected with mild hemophilia A (Eckhardt 2013, Factor VIII database and references therein). Affected individuals with this variant exhibit F8 activity measured between 14% and 18% of normal (Eckhardt 2013, Factor VIII database). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 502 is highly conserved, and other amino acid substitutions at this codon (p.Val502Asp, p.Val502Gly) have been reported in individuals with hemophilia A and are considered disease-causing (Eckhardt 2013, Fernandez-Lopez 2005, Factor VIII database and references therein). Based on available information, the p.Val502Phe variant is considered to be likely pathogenic. References: Factor VIII database: http://f8-db.eahad.org Eckhardt CL et al. Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. Blood. 2013 Sep 12;122(11):1954-62. Fernandez-Lopez O et al. The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. Haematologica. 2005 May;90(5):707-10.

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