ClinVar Miner

Submissions for variant NM_000504.4(F10):c.400G>A (p.Gly134Arg)

gnomAD frequency: 0.00001  dbSNP: rs368225671
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851777 SCV000899712 likely pathogenic Hereditary factor X deficiency disease 2019-02-01 criteria provided, single submitter research
3billion RCV000851777 SCV002318872 likely pathogenic Hereditary factor X deficiency disease 2022-03-22 criteria provided, single submitter clinical testing Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic (ClinVar ID: VCV000627060, PMID:12028042). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.94>=0.6). A missense variant is a common mechanism. The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000278). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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.