ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.530A>C (p.Lys177Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002970667 SCV003281548 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 177 of the MPL protein (p.Lys177Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. 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. This variant has not been reported in the literature in individuals affected with MPL-related conditions.

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