Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003802856 | SCV004592844 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2022-11-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MPL-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPL protein in which other variant(s) (p.Pro635Leu) have been determined to be pathogenic (PMID: 10971406, 11071383, 18422784). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu510Profs*35) in the MPL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 126 amino acid(s) of the MPL protein. |