ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg) (rs749004431)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501810 SCV000596878 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000694237 SCV000822672 uncertain significance Familial platelet disorder with associated myeloid malignancy 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 217 of the RUNX1 protein (p.Gly217Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs749004431, ExAC 0.01%). This variant has been reported in an individual affected with familial platelet disorder with B-cell precursor acute lymphoblastic leukemia (PMID: 20880108). This variant is also known as Gly190Arg in the literature. ClinVar contains an entry for this variant (Variation ID: 436614). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.
Fulgent Genetics,Fulgent Genetics RCV000765505 SCV000896808 uncertain significance Familial platelet disorder with associated myeloid malignancy; Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing

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