ClinVar Miner

Submissions for variant NM_000133.3(F9):c.224G>A (p.Arg75Gln) (rs137852228)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757260 SCV000885410 likely pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing The F9 c.224G>A; p.Arg75Gln variant (rs137852228) has been described in several individuals with mild hemophilia B (see link to Factor IX database and references therein). It is reported in ClinVar (Variation ID: 10573) and is observed at a low overall frequency of 0.0006% (1/178366 alleles) in the Genome Aggregation Database. The arginine at codon 75 is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant to be deleterious. Additionally, other variants at this position (p.Arg75Gly, p. Arg75Pro) have been observed in individuals affected with hemophilia B and are considered pathogenic (see link to Factor IX database and references therein, Martensson 2016). Based on available information, this variant is considered likely pathogenic. References: Link to Factor IX database: Martensson A et al. Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations. Haemophilia. 2016 May;22(3):440-5.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852079 SCV000899604 pathogenic Hereditary factor VIII deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000011319 SCV000031550 pathogenic Hereditary factor IX deficiency disease 1989-09-01 no assertion criteria provided literature only

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