ClinVar Miner

Submissions for variant NM_000132.3(F8):c.2150G>A (p.Arg717Gln) (rs942909873)

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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 RCV001000480 SCV001157362 pathogenic Hereditary factor VIII deficiency disease 2019-04-07 criteria provided, single submitter clinical testing The F8 c.2150G>A; p.Arg717Gln variant (rs942909873), also known as Arg698Gln, has been reported in individuals with mild hemophilia A (see link to F8 database and references therein, David 2006). It is observed in the general population at a low overall frequency of 0.0017% (3/181547 alleles, 1 hemizygote) in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at residue 717 is highly conserved, and other missense variants at this position (p.Arg717Trp, p.Arg717Leu, and p.Arg717Pro) have also been reported in individuals with hemophilia A (see link to F8 database and references therein, Markoff 2009). Based on the available information, the p.Arg717Gln variant is considered pathogenic. REFERENCES Factor VIII variant database: http://www.factorviii-db.org/ David D et al. The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients. Haematologica. 2006; 91(6):840-3. Markoff A et al. Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function. Haemophilia. 2009; 15(4):932-41.

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