ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.464A>T (p.Glu155Val)

gnomAD frequency: 0.00001  dbSNP: rs780341646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207907 SCV001379275 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-06-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 155 of the MPL protein (p.Glu155Val). This variant is present in population databases (rs780341646, gnomAD 0.05%). This missense change has been observed in individual(s) with severe anemia and thrombocytopenia (Invitae). ClinVar contains an entry for this variant (Variation ID: 938642). 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: "Benign"; 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.
Natera, Inc. RCV001833827 SCV002086023 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-03-10 no assertion criteria provided clinical testing

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