ClinVar Miner

Submissions for variant NM_000132.3(F8):c.379del (p.Ala127fs) (rs1454692506)

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 RCV000757256 SCV000885406 pathogenic not provided 2018-05-03 criteria provided, single submitter clinical testing The F8 c.379delG; p.Ala127fs variant has been described in at least one individual affected with severe hemophilia A (Chen 2010). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant creates a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream frameshift variants have been reported in individuals affected with severe hemophilia A (Chen 2010, Santacroce 2008). Based on available information, this variant is considered pathogenic. References: Chen Y et al. Genetic analysis of haemophilia A in Taiwan. Haemophilia. 2010 May;16(3):538-44. Santacroce R et al. Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. J Hum Genet. 2008;53(3):275-84.

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.