ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069965 SCV001235170 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-12-12 criteria provided, single submitter clinical testing This variant, c.1083_1085dup, results in the insertion of 1 amino acid(s) to the GATA2 protein (p.Arg362dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001547703 SCV001767472 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 32554555, 23560626)

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