Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003022964 | SCV003318514 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2022-05-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro281Leufs*16) in the MPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). This variant is not present in population databases (gnomAD no frequency). 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. |