ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1020G>A (p.Ser340=) (rs370166358)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649503 SCV000771332 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-11-14 criteria provided, single submitter clinical testing This sequence change affects codon 340 of the GATA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GATA2 protein. This variant is present in population databases (rs370166358, ExAC 0.03%). This variant has not been reported in the literature in individuals with GATA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 539721). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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