ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5605G>A (p.Gly1869Ser) (rs1417520379)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757255 SCV000885405 pathogenic not provided 2018-04-22 criteria provided, single submitter clinical testing The F8 c.5605G>A; p.Gly1869Ser, also known as p.Gly1850Ser for legacy nomenclature, has been described in at least one individual with severe hemophilia A (Ravanbod 2012). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 1869 is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Additionally, other variants at this codon (p.Gly1869Asp, p.Gly1869Val) have been reported in individuals with severe hemophilia A and are classified as pathogenic (see link to Factor VIII Database and references therein). Based on available information, this variant is considered pathogenic. References: Link to FVIII Database: http://www.factorviii-db.org/ Ravanbod S et al. Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. Haemophilia. 2012 May;18(3):e340-6.

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.