ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.393TGGAGGCCC[1] (p.132GGP[1])

dbSNP: rs2068696512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001290368 SCV001478420 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing This in-frame deletion is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. One bioinformatic tool queried predicts that this in-frame deletion would be tolerated. We consider the clinical significance of c.402_410del to be uncertain at this time.
Invitae RCV001302428 SCV001491637 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-11-29 criteria provided, single submitter clinical testing This variant, c.402_410del, results in the deletion of 3 amino acid(s) of the GATA2 protein (p.Gly135_Pro137del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 996088). 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.

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