ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1492G>A (p.Gly498Arg) (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 2018-11-19 criteria provided, single submitter clinical testing The F8 c.1492G>A; p.Gly498Arg variant (rs137852414), also known as Gly479Arg, has been reported in several individuals affected with hemophilia A, ranging in severity from mild to severe (see F8 variant database and references therein). This variant is reported in ClinVar (Variation ID: 10217), and is absent from the general population databases (Exome Variant Server, 1000 Genomes Project, 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 this variant to be damaging to the protein. Based on available information, this variant is considered pathogenic. REFERENCES Link to F8 variant database for p.Gly498Arg:
OMIM RCV000010930 SCV000031157 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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