ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002889670 SCV003240400 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-10-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with MPL-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1537_1539dup, results in the insertion of 1 amino acid(s) of the MPL protein (p.Leu513dup), but otherwise preserves the integrity of the reading frame.

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