ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002856671 SCV003221945 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GATA2 protein in which other variant(s) (p.Arg398Gln) have been determined to be pathogenic (PMID: 26710799, 31309983, 33417088). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Gln394*) in the GATA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acid(s) of the GATA2 protein. 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.

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