Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001941570 | SCV002237102 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp477*) 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 premature translational stop signal has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 32703794). ClinVar contains an entry for this variant (Variation ID: 1453832). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002507695 | SCV002816066 | likely pathogenic | Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 | 2021-07-12 | criteria provided, single submitter | clinical testing |