ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.464A>T (p.Glu155Val)

gnomAD frequency: 0.00001  dbSNP: rs780341646
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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 RCV001207907 SCV001379275 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 155 of the MPL protein (p.Glu155Val). This variant is present in population databases (rs780341646, gnomAD 0.05%). This missense change has been observed in individual(s) with severe anemia and thrombocytopenia (internal data). ClinVar contains an entry for this variant (Variation ID: 938642). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MPL protein function with a negative predictive value of 95%. 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. RCV001833827 SCV002086023 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-03-10 no assertion criteria provided clinical testing

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