ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.844G>A (p.Gly282Arg)

dbSNP: rs878854770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002518342 SCV003449018 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 282 of the MPL protein (p.Gly282Arg). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 240157). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine 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.
Natera, Inc. RCV001828117 SCV002086028 uncertain significance Congenital amegakaryocytic thrombocytopenia 2021-05-07 no assertion criteria provided clinical testing

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