ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1570C>T (p.Leu524=)

gnomAD frequency: 0.00055  dbSNP: rs146372205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373037 SCV000357786 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278380 SCV000357787 likely benign Congenital amegakaryocytic thrombocytopenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Counsyl RCV000278380 SCV000792765 likely benign Congenital amegakaryocytic thrombocytopenia 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000862247 SCV001002726 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820855 SCV002069514 likely benign not specified 2021-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243058 SCV003939369 likely benign Inborn genetic diseases 2023-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003409453 SCV004123656 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing MPL: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004537673 SCV004754607 likely benign MPL-related disorder 2020-10-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000278380 SCV001464145 likely benign Congenital amegakaryocytic thrombocytopenia 2020-01-09 no assertion criteria provided clinical testing

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.