ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.535T>C (p.Ser179Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071999 SCV003460280 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 179 of the MPL protein (p.Ser179Pro). This variant is present in population databases (rs746331868, gnomAD 0.004%). This missense change has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 17054430). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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