ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1546C>T (p.Gln516Ter)

dbSNP: rs2153919438
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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 RCV001972624 SCV002238359 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln516*) in the MPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1457364). For these reasons, this variant has been classified as Pathogenic.

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