ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.368G>A (p.Arg123Gln)

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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 RCV002603293 SCV003500921 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 123 of the MPL protein (p.Arg123Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs770877156, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MPL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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