ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)

dbSNP: rs1469739934
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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 RCV001969972 SCV002220683 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1442900). This premature translational stop signal has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 32703794). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln460*) 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).

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