ClinVar Miner

Submissions for variant NM_000132.4(F8):c.4825dup (p.Thr1609fs)

dbSNP: rs397514036
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103984 SCV002048532 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing The F8 c.4825dupA; p.Thr1609AsnfsTer4 variant (rs397514036) is reported in the literature in multiple individuals affected with severe hemophilia A (Lu 2018, Factor VIII database and references therein). In at least one affected individual, this variant is reported to have arisen de novo (Lu 2018). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Factor VIII variant database: https://f8-db.eahad.org/ Lu Y et al. Spectrum and origin of mutations in sporadic cases of haemophilia A in China. Haemophilia. 2018 Mar;24(2):291-298.
OMIM RCV000010976 SCV000031203 pathogenic Hereditary factor VIII deficiency disease 1993-12-01 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.