ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)

dbSNP: rs1373623383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953845 SCV002247285 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr63*) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 17666371). For these reasons, this variant has been classified as Pathogenic.

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