ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)

gnomAD frequency: 0.00001  dbSNP: rs1169744090
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Total submissions: 2
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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, Fulgent Genetics RCV002507695 SCV002816066 likely pathogenic Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 2021-07-12 criteria provided, single submitter clinical testing

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