ClinVar Miner

Submissions for variant NM_000132.4(F8):c.89A>G (p.Glu30Gly)

dbSNP: rs137852378
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 RCV001803537 SCV002048332 uncertain significance Hereditary factor VIII deficiency disease 2021-08-19 criteria provided, single submitter clinical testing The F8 c.89A>G; p.Glu30Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, other variants at this codon (c.88G>A, p.Glu30Lys; c.89A>T, p.Glu30Val) have been reported in individuals with mild to moderate hemophilia A and are considered pathogenic (see F8 database and references therein, Abdul-Ghafar 2010). The glutamic acid at codon 30 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.83). However, given the lack of clinical and functional data, the significance of the p.Glu30Gly variant is uncertain at this time. References: Link to F8 database and references therein : https://f8-db.eahad.org/index.php Abdul-Ghafar A et al. Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore. Haemophilia. 2010 May;16(3):551-3. PMID: 20028422.

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.