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
Labcorp Genetics (formerly Invitae), Labcorp RCV002518342 SCV003449018 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-08-14 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). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MPL protein function with a negative predictive value of 95%. 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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