ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.548C>T (p.Thr183Met)

gnomAD frequency: 0.00004  dbSNP: rs137952228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374112 SCV001570889 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 183 of the MPL protein (p.Thr183Met). This variant is present in population databases (rs137952228, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MPL-related conditions. 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.
Natera, Inc. RCV001826118 SCV002086025 uncertain significance Congenital amegakaryocytic thrombocytopenia 2021-03-05 no assertion criteria provided clinical testing

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