ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)

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
Invitae RCV001061249 SCV001225985 pathogenic Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp416*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). A different variant c.1248G>A resulting in the same protein truncation (p.Trp416*) has been observed in individual(s) with clinical features of aplastic anemia (PMID: 22180433). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as 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.