ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) (rs997764249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640922 SCV000762526 uncertain significance Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Diamond-Blackfan anemia 2017-11-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 140 of the GATA1 protein (p.Arg140Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA1-related disease. 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: "Tolerated"; 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.
Baylor Genetics RCV001330679 SCV001522431 uncertain significance Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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