ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)

dbSNP: rs1647077635
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 RCV001034960 SCV001198263 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2020-01-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the MPL protein. Other variants that disrupt this region (p.Pro635Leu, p.Tyr542Leufs*3) have been observed in individuals with MPL-related conditions (PMID: 29384262,11071383, 18422784, 10971406). This suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MPL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MPL gene (p.Ser493Tyrfs*53). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 143 amino acids of the MPL protein.

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.