ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)

gnomAD frequency: 0.00009  dbSNP: rs3820551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002570419 SCV003455682 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 537 of the MPL protein (p.Arg537Gln). This variant is present in population databases (rs3820551, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of MPL-related conditions (PMID: 34573280). ClinVar contains an entry for this variant (Variation ID: 973650). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267773 SCV001424091 uncertain significance Thrombocythemia 2 2020-05-21 no assertion criteria provided clinical testing

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