ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.809G>A (p.Gly270Glu)

gnomAD frequency: 0.00001  dbSNP: rs1361284210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296338 SCV001485298 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 270 of the MPL protein (p.Gly270Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with bone marrow failure (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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