ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.413del (p.Ile138fs) (rs1343123940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633169 SCV000754384 pathogenic Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1 2017-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile138Thrfs*28) 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). This variant has not been reported in the literature in individuals with MPL-related disease. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004148 SCV001162891 likely pathogenic Congenital amegakaryocytic thrombocytopenia criteria provided, single submitter clinical testing

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