Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003796758 | SCV004585396 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2023-01-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is present in population databases (rs769674316, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Cys194*) 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). |