Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818204 | SCV000958804 | pathogenic | Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia | 2019-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg357*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751975712, ExAC 0.01%). This variant has been observed in individuals affected with congenital amegakaryocytic thrombocytopenia (PMID: 21162090, 29384262). ClinVar contains an entry for this variant (Variation ID: 660904). Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as Pathogenic. |