ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.292C>G (p.Gln98Glu)

gnomAD frequency: 0.00002  dbSNP: rs752682807
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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 RCV001926978 SCV002198326 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 98 of the MPL protein (p.Gln98Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs752682807, ExAC 0.004%). 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 (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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