ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.313T>C (p.Phe105Leu)

gnomAD frequency: 0.00009  dbSNP: rs145313814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817257 SCV002067044 uncertain significance not specified 2019-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478051 SCV002782442 uncertain significance Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 2022-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541981 SCV003295548 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 105 of the MPL protein (p.Phe105Leu). This variant is present in population databases (rs145313814, gnomAD 0.04%). 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: 1336302). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MPL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV004691442 SCV005186635 uncertain significance not provided criteria provided, single submitter not provided

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