ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)

dbSNP: rs759361904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381626 SCV001580105 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr91*) 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: 1069689). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005023133 SCV005651092 likely pathogenic Primary myelofibrosis; Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545220 SCV004776440 likely pathogenic MPL-related disorder 2024-02-13 no assertion criteria provided clinical testing The MPL c.273C>A variant is predicted to result in premature protein termination (p.Tyr91*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in MPL are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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