ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) (rs751975712)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818204 SCV000958804 pathogenic Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2019-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg357*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751975712, ExAC 0.01%). This variant has been observed in individuals affected with congenital amegakaryocytic thrombocytopenia (PMID: 21162090, 29384262). ClinVar contains an entry for this variant (Variation ID: 660904). Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as Pathogenic.

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