Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502932 | SCV000595821 | pathogenic | Congenital amegakaryocytic thrombocytopenia | 2015-10-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000502932 | SCV001810505 | pathogenic | Congenital amegakaryocytic thrombocytopenia | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766829 | SCV004591419 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2023-05-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 435886). This premature translational stop signal has been observed in individual(s) with MPL-related conditions (PMID: 28104920). This variant is present in population databases (rs770457041, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg325Glufs*44) 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). |