ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)

gnomAD frequency: 0.00018  dbSNP: rs770428240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533527 SCV000827195 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 487 of the MPL protein (p.Thr487Ile). This variant is present in population databases (rs770428240, gnomAD 0.06%). 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: 576110). 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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