ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)

dbSNP: rs1647059649
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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 RCV001061249 SCV001225985 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2019-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp416*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). A different variant c.1248G>A resulting in the same protein truncation (p.Trp416*) has been observed in individual(s) with clinical features of aplastic anemia (PMID: 22180433). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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