ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.872-5T>G (rs886038417)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548492 SCV000651523 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2017-04-06 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the GATA2 gene. It does not directly change the encoded amino acid sequence of the GATA2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GATA2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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