ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)

dbSNP: rs2148567338
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 RCV001802551 SCV002048858 likely pathogenic Hereditary factor VIII deficiency disease 2021-05-12 criteria provided, single submitter clinical testing The F8 c.6593G>A; p.Gly2198Glu variant, also known as p.Gly2179Glu, is reported in the literature in an individual affected with severe hemophilia A (see F8 database and references therein). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, other variants at this codon (c.6592G>A, p.Gly2198Arg; c.6593G>T, p.Gly2198Val) have been reported in individuals with severe hemophilia A and are considered pathogenic (F8 database). The glycine at codon 2198 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.94). Based on available information, this variant is considered to likely pathogenic. References: F8 variant database: https://f8-db.eahad.org/index.php

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.