ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1566-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1570474015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002012532 SCV002280864 likely pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-10-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 10971406). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 10 of the MPL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753).
Fulgent Genetics, Fulgent Genetics RCV002497985 SCV002809823 likely pathogenic Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 2021-10-12 criteria provided, single submitter clinical testing

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