ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1492G>A (p.Gly498Arg)

dbSNP: rs137852414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851700 SCV000899516 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010930 SCV001159356 pathogenic Hereditary factor VIII deficiency disease 2019-12-03 criteria provided, single submitter clinical testing The F8 c.1492G>A; p.Gly498Arg variant (rs137852414), also known as Gly479Arg, is reported in the literature in several individuals affected with hemophilia A, with a severity ranging from mild to severe (see F8 variant database and references therein). This variant is reported in ClinVar (Variation ID: 10217), but is absent from the general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at residue 498 is highly conserved, and computational algorithms (SIFT, PolyPhen-2) predict that this is deleterious. Based on available information, this variant is considered to be pathogenic. References: Link to F8 variant database for p.Gly498Arg: http://www.factorviii-db.org/advance_search_results.php?dosearch=1&nucleotide=1492
OMIM RCV000010930 SCV000031157 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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