ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)

dbSNP: rs1647060064
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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 RCV001220159 SCV001392135 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2019-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). This variant has not been reported in the literature in individuals with MPL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln424*) in the MPL gene. It is expected to result in an absent or disrupted protein product.

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