ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.131C>T (p.Thr44Ile)

dbSNP: rs772445486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264883 SCV002546499 uncertain significance Congenital amegakaryocytic thrombocytopenia criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534016 SCV004117772 uncertain significance MPL-related disorder 2023-04-14 criteria provided, single submitter clinical testing The MPL c.131C>T variant is predicted to result in the amino acid substitution p.Thr44Ile. This variant has been reported in the compound heterozygous state in an individual with congenital amegakaryocytic thrombocytopenia (Lo et al. 2018. PubMed ID: 28859041). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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