ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1194G>A (p.Trp398Ter)

dbSNP: rs1570470199
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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 RCV000818119 SCV000958716 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2018-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 disease. This sequence change creates a premature translational stop signal (p.Trp398*) in the MPL gene. It is expected to result in an absent or disrupted protein product.

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