ClinVar Miner

Submissions for variant NM_000132.3(F8):c.4870G>T (p.Glu1624Ter) (rs1603433733)

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 RCV001001170 SCV001158321 pathogenic Hereditary factor VIII deficiency disease 2019-03-19 criteria provided, single submitter clinical testing The F8 c.4870G>T; p.Glu1624Ter, to our knowledge, is not reported in the medical literature or gene-specific databases. However, several other variants that introduce a premature termination codon in this region are described as pathogenic in the ClinVar database (see link below). The c.4870G>T; p.Glu1624Ter variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic. References: Link to F8 in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/?term=F8%5Bgene%5D

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.