ClinVar Miner

Submissions for variant NM_000132.4(F8):c.797G>A (p.Gly266Glu)

dbSNP: rs137852398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010898 SCV002049553 likely pathogenic Hereditary factor VIII deficiency disease 2021-09-07 criteria provided, single submitter clinical testing The F8 c.797G>A; p.Gly266Glu variant (rs137852398), also known as p.Gly247Glu, is reported in the literature in multiple individuals affected with mild to moderate hemophilia A (see F8 database and references therein, Eckhardt 2014, Li 2020). This variant is also reported in ClinVar (Variation ID: 10185). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at codon 266 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.775). Based on available information, this variant is considered to be likely pathogenic. References: Link to F8 database: https://f8-db.eahad.org/index.php 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. Erratum in: Blood. 2014 May 8;123(19):3056. PMID: 23926300. Li Q et al. Target capture next-generation sequencing in non-inversion haemophilia: an alternative approach. Br J Haematol. 2020 May;189(4):e168-e170. PMID: 32190902. PMID: 8547094.
OMIM RCV000010898 SCV000031125 pathogenic Hereditary factor VIII deficiency disease 2013-09-12 no assertion criteria provided literature only

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