ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1372del (p.Thr458fs)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702752 SCV005203115 likely pathogenic Hereditary factor IX deficiency disease 2024-07-09 criteria provided, single submitter clinical testing Variant summary: F9 c.1372delA (p.Thr458GlnfsX25) causes a frameshift which results in an extension of the protein. The variant was absent in 182210 control chromosomes (gnomAD). The variant, c.1372delA, has been reported in the literature in individuals affected with severe Factor IX Deficiency (Hemophilia B), including a de novo occurrence (e.g. Thompson_1994, Belvini_2005). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 8076948, 15921378). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.