ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.614C>T (p.Ala205Val)

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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 RCV003313840 SCV004013017 uncertain significance Congenital amegakaryocytic thrombocytopenia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005216041 SCV005857525 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-03-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 205 of the MPL protein (p.Ala205Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 2572102). 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 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.

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