Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002234427 | SCV000754384 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2023-07-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile138Thrfs*28) 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 528088). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001004148 | SCV001162891 | likely pathogenic | Congenital amegakaryocytic thrombocytopenia | criteria provided, single submitter | clinical testing |