Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514646 | SCV003244602 | pathogenic | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2023-08-28 | 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: 134831). This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is present in population databases (rs587778518, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn250Trpfs*13) 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). |
ITMI | RCV000121546 | SCV000085740 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |