ClinVar Miner

Submissions for variant NM_156039.3(CSF3R):c.1640G>A (p.Trp547Ter)

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
Invitae RCV000691914 SCV000819713 pathogenic Neutropenia, severe congenital, 7, autosomal recessive 2018-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp547*) in the CSF3R gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs138156467, ExAC 0.04%). This variant has been reported to be compound heterozygous with a second pathogenic variant in an individual affected with congenital neutropenia (PMID: 26324699). Loss-of-function variants in CSF3R are known to be pathogenic (PMID: 24753537, 26324699). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000691914 SCV000292052 pathogenic Neutropenia, severe congenital, 7, autosomal recessive 2016-07-05 no assertion criteria provided literature only

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.