ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)

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
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV003154845 SCV003843866 likely pathogenic Congenital amegakaryocytic thrombocytopenia criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004771539 SCV005382349 uncertain significance Congenital amegakaryocytic thrombocytopenia 1 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.1589C>T (p.Pro530Leu) variant in MPL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro530Leu variant is present with allele frequency of 0.0008% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Likely Pathogenic. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid of p.Pro530Leu in MPL is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 530 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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.