ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.556C>T (p.Gln186Ter)

dbSNP: rs121913610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000015217 SCV002074189 pathogenic Congenital amegakaryocytic thrombocytopenia 2022-01-10 criteria provided, single submitter clinical testing Variant summary: MPL c.556C>T (p.Gln186X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant results in a truncated protein with 71% C-terminal deletion, lacking one of two cytokine receptor domains as well as transmembrane and cytoplasmic domains, leaving the mutational product predicted to have no function as a TPO receptor (Ihara_1999). The variant was absent in 251468 control chromosomes. c.556C>T has been reported in the literature in an individual affected with Congenital Amegakaryocytic Thrombocytopenia (Ihara_1999). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005025056 SCV005651186 pathogenic Primary myelofibrosis; Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV004558254 SCV000035475 pathogenic Congenital amegakaryocytic thrombocytopenia 1 1999-03-16 no assertion criteria provided literature only

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