ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) (rs1302209849)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813136 SCV000953480 pathogenic Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu488*) in the MPL gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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.

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