ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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: http://www.factorix.org/ 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.